esv3468402
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:56
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,119
- Publication(s):1000 Genomes Project Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 527 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 527 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3468402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| esv3468402 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| esv3468402 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 12,864,412 (-1960, +340) | 12,873,530 (-380, +1920) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9427237 | deletion | SAMN00800837 | Sequencing | Read depth | 13,756 |
| essv9427238 | deletion | SAMN00797406 | Sequencing | Read depth | 9,724 |
| essv9427239 | deletion | SAMN00801680 | Sequencing | Read depth | 19,937 |
| essv9427240 | deletion | SAMN00797419 | Sequencing | Read depth | 10,938 |
| essv9427241 | deletion | SAMN00797054 | Sequencing | Read depth | 11,153 |
| essv9427242 | deletion | SAMN00001564 | Sequencing | Read depth | 9,310 |
| essv9427243 | deletion | SAMN00801099 | Sequencing | Read depth | 14,647 |
| essv9427244 | deletion | SAMN00801912 | Sequencing | Read depth | 25,841 |
| essv9427245 | deletion | SAMN00801684 | Sequencing | Read depth | 16,980 |
| essv9427246 | deletion | SAMN00001612 | Sequencing | Read depth | 15,685 |
| essv9427248 | deletion | SAMN00001544 | Sequencing | Read depth | 15,303 |
| essv9427249 | deletion | SAMN00801027 | Sequencing | Read depth | 12,816 |
| essv9427250 | deletion | SAMN00001642 | Sequencing | Read depth | 13,338 |
| essv9427251 | deletion | SAMN00001548 | Sequencing | Read depth | 9,117 |
| essv9427252 | deletion | SAMN00001655 | Sequencing | Read depth | 9,990 |
| essv9427253 | deletion | SAMN00001515 | Sequencing | Read depth | 10,176 |
| essv9427254 | deletion | SAMN00797154 | Sequencing | Read depth | 12,042 |
| essv9427255 | deletion | SAMN00001619 | Sequencing | Read depth | 14,368 |
| essv9427256 | deletion | SAMN00801237 | Sequencing | Read depth | 9,493 |
| essv9427257 | deletion | SAMN00001696 | Sequencing | Read depth | 44,056 |
| essv9427259 | deletion | SAMN00801049 | Sequencing | Read depth | 10,931 |
| essv9427260 | deletion | SAMN00001584 | Sequencing | Read depth | 11,452 |
| essv9427261 | deletion | SAMN00801055 | Sequencing | Read depth | 13,732 |
| essv9427262 | deletion | SAMN00797025 | Sequencing | Read depth | 11,740 |
| essv9427263 | deletion | SAMN00001546 | Sequencing | Read depth | 15,275 |
| essv9427264 | deletion | SAMN00800835 | Sequencing | Read depth | 10,547 |
| essv9427265 | deletion | SAMN00801682 | Sequencing | Read depth | 12,291 |
| essv9427266 | deletion | SAMN00001554 | Sequencing | Read depth | 9,542 |
| essv9427267 | deletion | SAMN00801051 | Sequencing | Read depth | 14,990 |
| essv9427268 | deletion | SAMN00001538 | Sequencing | Read depth | 26,254 |
| essv9427270 | deletion | SAMN00001638 | Sequencing | Read depth | 14,476 |
| essv9427271 | deletion | SAMN00001525 | Sequencing | Read depth | 19,957 |
| essv9427272 | deletion | SAMN00001650 | Sequencing | Read depth | 10,066 |
| essv9427273 | deletion | SAMN00800258 | Sequencing | Read depth | 12,098 |
| essv9427274 | deletion | SAMN00001658 | Sequencing | Read depth | 9,514 |
| essv9427275 | deletion | SAMN00801509 | Sequencing | Read depth | 9,024 |
| essv9427276 | deletion | SAMN00801241 | Sequencing | Read depth | 14,163 |
| essv9427277 | deletion | SAMN00001530 | Sequencing | Read depth | 9,564 |
| essv9427278 | deletion | SAMN00001602 | Sequencing | Read depth | 14,902 |
| essv9427279 | deletion | SAMN00001534 | Sequencing | Read depth | 9,499 |
| essv9427281 | deletion | SAMN00001672 | Sequencing | Read depth | 4,244 |
| essv9427282 | deletion | SAMN00001600 | Sequencing | Read depth | 15,861 |
| essv9427283 | deletion | SAMN00800949 | Sequencing | Read depth | 10,307 |
| essv9427284 | deletion | SAMN00800947 | Sequencing | Read depth | 10,286 |
| essv9427285 | deletion | SAMN00801704 | Sequencing | Read depth | 16,979 |
| essv9427286 | deletion | SAMN00801646 | Sequencing | Read depth | 11,757 |
| essv9427287 | deletion | SAMN00001639 | Sequencing | Read depth | 14,223 |
| essv9427288 | deletion | SAMN00001607 | Sequencing | Read depth | 9,760 |
| essv9427289 | deletion | SAMN00801031 | Sequencing | Read depth | 9,208 |
| essv9427290 | deletion | SAMN00797126 | Sequencing | Read depth | 11,843 |
| essv9427292 | deletion | SAMN00001556 | Sequencing | Read depth | 17,127 |
| essv9427293 | deletion | SAMN00801888 | Sequencing | Read depth | 69,298 |
| essv9427294 | deletion | SAMN00801708 | Sequencing | Read depth | 16,085 |
| essv9427295 | deletion | SAMN00801103 | Sequencing | Read depth | 9,141 |
| essv9427296 | deletion | SAMN00801317 | Sequencing | Read depth | 13,343 |
| essv9427297 | deletion | SAMN00001623 | Sequencing | Read depth | 10,870 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9427237 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427238 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427239 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427240 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427241 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427242 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427243 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427244 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427245 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427246 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427248 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427249 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427250 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427251 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427252 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427253 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427254 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427255 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427256 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427257 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427259 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427260 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427261 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427262 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427263 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427264 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427265 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427266 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427267 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427268 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427270 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427271 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427272 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427273 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427274 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427275 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427276 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427277 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427278 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427279 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427281 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427282 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427283 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427284 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427285 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427286 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427287 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427288 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427289 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427290 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427292 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427293 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427294 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427295 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427296 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427297 | Remapped | Perfect | NC_000005.10:g.(12 809340_12811640)_( 12820038_12822338) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,811,300 (-1960, +340) | 12,820,418 (-380, +1920) |
| essv9427237 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427238 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427239 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427240 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427241 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427242 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427243 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427244 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427245 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427246 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427248 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427249 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427250 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427251 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427252 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427253 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427254 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427255 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427256 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427257 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427259 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427260 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427261 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427262 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427263 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427264 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427265 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427266 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427267 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427268 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427270 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427271 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427272 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427273 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427274 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427275 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427276 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427277 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427278 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427279 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427281 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427282 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427283 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
| essv9427284 | Remapped | Perfect | NC_000005.9:g.(128 09452_12811752)_(1 2820150_12822450)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 12,811,412 (-1960, +340) | 12,820,530 (-380, +1920) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9427253 | 36 | SAMN00001515 | Digital array | Other | Pass |
| essv9427253 | 38 | SAMN00001515 | Digital array | Other | Pass |
| essv9427271 | 36 | SAMN00001525 | Digital array | Other | Pass |
| essv9427271 | 38 | SAMN00001525 | Digital array | Other | Pass |
| essv9427277 | 36 | SAMN00001530 | Digital array | Other | Pass |
| essv9427277 | 38 | SAMN00001530 | Digital array | Other | Pass |
| essv9427279 | 36 | SAMN00001534 | Digital array | Other | Pass |
| essv9427279 | 38 | SAMN00001534 | Digital array | Other | Pass |
| essv9427268 | 36 | SAMN00001538 | Digital array | Other | Pass |
| essv9427268 | 38 | SAMN00001538 | Digital array | Other | Pass |
| essv9427248 | 36 | SAMN00001544 | Digital array | Other | Pass |
| essv9427248 | 38 | SAMN00001544 | Digital array | Other | Pass |
| essv9427263 | 36 | SAMN00001546 | Digital array | Other | Pass |
| essv9427263 | 38 | SAMN00001546 | Digital array | Other | Pass |
| essv9427251 | 36 | SAMN00001548 | Digital array | Other | Pass |
| essv9427251 | 38 | SAMN00001548 | Digital array | Other | Pass |
| essv9427266 | 36 | SAMN00001554 | Digital array | Other | Pass |
| essv9427266 | 38 | SAMN00001554 | Digital array | Other | Pass |
| essv9427292 | 36 | SAMN00001556 | Digital array | Other | Pass |
| essv9427292 | 38 | SAMN00001556 | Digital array | Other | Pass |
| essv9427242 | 36 | SAMN00001564 | Digital array | Other | Pass |
| essv9427242 | 38 | SAMN00001564 | Digital array | Other | Pass |
| essv9427260 | 36 | SAMN00001584 | Digital array | Other | Pass |
| essv9427260 | 38 | SAMN00001584 | Digital array | Other | Pass |
| essv9427282 | 36 | SAMN00001600 | Digital array | Other | Pass |
| essv9427282 | 38 | SAMN00001600 | Digital array | Other | Pass |
| essv9427278 | 36 | SAMN00001602 | Digital array | Other | Pass |
| essv9427278 | 38 | SAMN00001602 | Digital array | Other | Pass |
| essv9427288 | 36 | SAMN00001607 | Digital array | Other | Pass |
| essv9427288 | 38 | SAMN00001607 | Digital array | Other | Pass |
| essv9427246 | 36 | SAMN00001612 | Digital array | Other | Pass |
| essv9427246 | 38 | SAMN00001612 | Digital array | Other | Pass |
| essv9427255 | 36 | SAMN00001619 | Digital array | Other | Pass |
| essv9427255 | 38 | SAMN00001619 | Digital array | Other | Pass |
| essv9427297 | 36 | SAMN00001623 | Digital array | Other | Pass |
| essv9427297 | 38 | SAMN00001623 | Digital array | Other | Pass |
| essv9427270 | 36 | SAMN00001638 | Digital array | Other | Pass |
| essv9427270 | 38 | SAMN00001638 | Digital array | Other | Pass |
| essv9427287 | 36 | SAMN00001639 | Digital array | Other | Pass |
| essv9427287 | 38 | SAMN00001639 | Digital array | Other | Pass |
| essv9427250 | 36 | SAMN00001642 | Digital array | Other | Pass |
| essv9427250 | 38 | SAMN00001642 | Digital array | Other | Pass |
| essv9427272 | 36 | SAMN00001650 | Digital array | Other | Pass |
| essv9427272 | 38 | SAMN00001650 | Digital array | Other | Pass |
| essv9427252 | 36 | SAMN00001655 | Digital array | Other | Pass |
| essv9427252 | 38 | SAMN00001655 | Digital array | Other | Pass |
| essv9427274 | 36 | SAMN00001658 | Digital array | Other | Pass |
| essv9427274 | 38 | SAMN00001658 | Digital array | Other | Pass |
| essv9427281 | 36 | SAMN00001672 | Digital array | Other | Pass |
| essv9427281 | 38 | SAMN00001672 | Digital array | Other | Pass |
| essv9427257 | 36 | SAMN00001696 | Digital array | Other | Pass |
| essv9427257 | 38 | SAMN00001696 | Digital array | Other | Pass |
| essv9427262 | 36 | SAMN00797025 | Digital array | Other | Pass |
| essv9427262 | 38 | SAMN00797025 | Digital array | Other | Pass |
| essv9427241 | 36 | SAMN00797054 | Digital array | Other | Pass |
| essv9427241 | 38 | SAMN00797054 | Digital array | Other | Pass |
| essv9427290 | 36 | SAMN00797126 | Digital array | Other | Pass |
| essv9427290 | 38 | SAMN00797126 | Digital array | Other | Pass |
| essv9427254 | 36 | SAMN00797154 | Digital array | Other | Pass |
| essv9427254 | 38 | SAMN00797154 | Digital array | Other | Pass |
| essv9427238 | 36 | SAMN00797406 | Digital array | Other | Pass |
| essv9427238 | 38 | SAMN00797406 | Digital array | Other | Pass |
| essv9427240 | 36 | SAMN00797419 | Digital array | Other | Pass |
| essv9427240 | 38 | SAMN00797419 | Digital array | Other | Pass |
| essv9427273 | 36 | SAMN00800258 | Digital array | Other | Pass |
| essv9427273 | 38 | SAMN00800258 | Digital array | Other | Pass |
| essv9427264 | 36 | SAMN00800835 | Digital array | Other | Pass |
| essv9427264 | 38 | SAMN00800835 | Digital array | Other | Pass |
| essv9427237 | 36 | SAMN00800837 | Digital array | Other | Pass |
| essv9427237 | 38 | SAMN00800837 | Digital array | Other | Pass |
| essv9427284 | 36 | SAMN00800947 | Digital array | Other | Pass |
| essv9427284 | 38 | SAMN00800947 | Digital array | Other | Pass |
| essv9427283 | 36 | SAMN00800949 | Digital array | Other | Pass |
| essv9427283 | 38 | SAMN00800949 | Digital array | Other | Pass |
| essv9427249 | 36 | SAMN00801027 | Digital array | Other | Pass |
| essv9427249 | 38 | SAMN00801027 | Digital array | Other | Pass |
| essv9427289 | 36 | SAMN00801031 | Digital array | Other | Pass |
| essv9427289 | 38 | SAMN00801031 | Digital array | Other | Pass |
| essv9427259 | 36 | SAMN00801049 | Digital array | Other | Pass |
| essv9427259 | 38 | SAMN00801049 | Digital array | Other | Pass |
| essv9427267 | 36 | SAMN00801051 | Digital array | Other | Pass |
| essv9427267 | 38 | SAMN00801051 | Digital array | Other | Pass |
| essv9427261 | 36 | SAMN00801055 | Digital array | Other | Pass |
| essv9427261 | 38 | SAMN00801055 | Digital array | Other | Pass |
| essv9427243 | 36 | SAMN00801099 | Digital array | Other | Pass |
| essv9427243 | 38 | SAMN00801099 | Digital array | Other | Pass |
| essv9427295 | 36 | SAMN00801103 | Digital array | Other | Pass |
| essv9427295 | 38 | SAMN00801103 | Digital array | Other | Pass |
| essv9427256 | 36 | SAMN00801237 | Digital array | Other | Pass |
| essv9427256 | 38 | SAMN00801237 | Digital array | Other | Pass |
| essv9427276 | 36 | SAMN00801241 | Digital array | Other | Pass |
| essv9427276 | 38 | SAMN00801241 | Digital array | Other | Pass |
| essv9427296 | 36 | SAMN00801317 | Digital array | Other | Pass |
| essv9427296 | 38 | SAMN00801317 | Digital array | Other | Pass |
| essv9427275 | 36 | SAMN00801509 | Digital array | Other | Pass |
| essv9427275 | 38 | SAMN00801509 | Digital array | Other | Pass |
| essv9427286 | 36 | SAMN00801646 | Digital array | Other | Pass |
| essv9427286 | 38 | SAMN00801646 | Digital array | Other | Pass |
| essv9427239 | 36 | SAMN00801680 | Digital array | Other | Pass |
| essv9427239 | 38 | SAMN00801680 | Digital array | Other | Pass |
| essv9427265 | 36 | SAMN00801682 | Digital array | Other | Pass |
| essv9427265 | 38 | SAMN00801682 | Digital array | Other | Pass |
| essv9427245 | 36 | SAMN00801684 | Digital array | Other | Pass |
| essv9427245 | 38 | SAMN00801684 | Digital array | Other | Pass |
| essv9427285 | 36 | SAMN00801704 | Digital array | Other | Pass |
| essv9427285 | 38 | SAMN00801704 | Digital array | Other | Pass |
| essv9427294 | 36 | SAMN00801708 | Digital array | Other | Pass |
| essv9427294 | 38 | SAMN00801708 | Digital array | Other | Pass |
| essv9427293 | 36 | SAMN00801888 | Digital array | Other | Pass |
| essv9427293 | 38 | SAMN00801888 | Digital array | Other | Pass |
| essv9427244 | 36 | SAMN00801912 | Digital array | Other | Pass |
| essv9427244 | 38 | SAMN00801912 | Digital array | Other | Pass |