esv2745551
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,037
- Publication(s):Wong et al. 2013
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: 887 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 888 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv2745551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,091,435 | - | 11,133,544 |
| esv2745551 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,578 |
| esv2745551 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,162 | - | 364,198 |
| esv2745551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,244,034 | - | 11,286,143 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6876656 | deletion | SSM092 | Sequencing | Paired-end mapping | 2,676 |
| essv6732112 | deletion | SSM047 | Sequencing | Paired-end mapping | 3,502 |
| essv6687298 | deletion | SSM005 | Sequencing | Paired-end mapping | 2,389 |
| essv6949081 | deletion | SSM024 | Sequencing | Paired-end mapping | 3,639 |
| essv6959239 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6873672 | deletion | SSM091 | Sequencing | Paired-end mapping | 2,687 |
| essv6857174 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6924331 | deletion | SSM018 | Sequencing | Paired-end mapping | 3,574 |
| essv6706207 | deletion | SSM040 | Sequencing | Paired-end mapping | 3,085 |
| essv6755536 | deletion | SSM058 | Sequencing | Paired-end mapping | 2,747 |
| essv6970793 | deletion | SSM028 | Sequencing | Paired-end mapping | 3,943 |
| essv6815458 | deletion | SSM077 | Sequencing | Paired-end mapping | 3,068 |
| essv6796017 | deletion | SSM071 | Sequencing | Paired-end mapping | 3,743 |
| essv6838611 | deletion | SSM083 | Sequencing | Paired-end mapping | 3,414 |
| essv6885077 | deletion | SSM095 | Sequencing | Paired-end mapping | 2,453 |
| essv6977153 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6702438 | deletion | SSM039 | Sequencing | Paired-end mapping | 3,825 |
| essv6812207 | deletion | SSM076 | Sequencing | Paired-end mapping | 2,535 |
| essv6687276 | deletion | SSM005 | Sequencing | Paired-end mapping | 2,389 |
| essv6681562 | deletion | SSM033 | Sequencing | Paired-end mapping | 3,319 |
| essv6894635 | deletion | SSM098 | Sequencing | Paired-end mapping | 3,190 |
| essv6897645 | deletion | SSM099 | Sequencing | Paired-end mapping | 2,492 |
| essv6851152 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6791844 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6800207 | deletion | SSM072 | Sequencing | Paired-end mapping | 3,775 |
| essv6803492 | deletion | SSM073 | Sequencing | Paired-end mapping | 2,506 |
| essv6720677 | deletion | SSM044 | Sequencing | Paired-end mapping | 3,453 |
| essv6809367 | deletion | SSM075 | Sequencing | Paired-end mapping | 2,669 |
| essv6924332 | deletion | SSM018 | Sequencing | Paired-end mapping | 3,574 |
| essv6959237 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6688279 | deletion | SSM035 | Sequencing | Paired-end mapping | 2,787 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv6876656 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328420)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,420 |
| essv6732112 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328528)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,528 |
| essv6687298 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328577)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,577 |
| essv6949081 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328577)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,577 |
| essv6959239 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328577)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,577 |
| essv6873672 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328578)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,578 |
| essv6857174 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328589)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,589 |
| essv6924331 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328594)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,594 |
| essv6706207 | Remapped | Pass | NT_187658.1:g.(?_2 93466)_(?_328595)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 328,595 |
| essv6755536 | Remapped | Good | NT_187658.1:g.(?_2 93466)_(?_332626)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | - | 293,466 | 332,626 |
| essv6949081 | Remapped | Pass | NW_003571050.1:g.( 290162_?)_(?_36419 7)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,162 | - | 364,197 |
| essv6857174 | Remapped | Pass | NW_003571050.1:g.( 290162_?)_(?_36420 9)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,162 | - | 364,209 |
| essv6706207 | Remapped | Pass | NW_003571050.1:g.( 290162_?)_(?_36421 5)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,162 | - | 364,215 |
| essv6732112 | Remapped | Pass | NW_003571050.1:g.( 290265_?)_(?_36414 8)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,265 | - | 364,148 |
| essv6924331 | Remapped | Pass | NW_003571050.1:g.( 290265_?)_(?_36421 4)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,265 | - | 364,214 |
| essv6876656 | Remapped | Pass | NW_003571050.1:g.( 290292_?)_(?_36404 0)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,292 | - | 364,040 |
| essv6687298 | Remapped | Pass | NW_003571050.1:g.( 290303_?)_(?_36419 7)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,303 | - | 364,197 |
| essv6959239 | Remapped | Pass | NW_003571050.1:g.( 290423_?)_(?_36419 7)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,423 | - | 364,197 |
| essv6873672 | Remapped | Pass | NW_003571050.1:g.( 290488_?)_(?_36419 8)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 290,488 | - | 364,198 |
| essv6755536 | Remapped | Pass | NW_003571050.1:g.( 296677_?)_(?_36830 0)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 296,677 | - | 368,300 |
| essv6949081 | Remapped | Perfect | NC_000012.12:g.(11 091435_?)_(?_11133 543)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,435 | - | 11,133,543 |
| essv6857174 | Remapped | Perfect | NC_000012.12:g.(11 091435_?)_(?_11133 555)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,435 | - | 11,133,555 |
| essv6706207 | Remapped | Perfect | NC_000012.12:g.(11 091435_?)_(?_11133 561)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,435 | - | 11,133,561 |
| essv6732112 | Remapped | Perfect | NC_000012.12:g.(11 091538_?)_(?_11133 494)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,538 | - | 11,133,494 |
| essv6924331 | Remapped | Perfect | NC_000012.12:g.(11 091538_?)_(?_11133 560)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,538 | - | 11,133,560 |
| essv6876656 | Remapped | Perfect | NC_000012.12:g.(11 091565_?)_(?_11133 386)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,565 | - | 11,133,386 |
| essv6687298 | Remapped | Perfect | NC_000012.12:g.(11 091576_?)_(?_11133 543)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,576 | - | 11,133,543 |
| essv6959239 | Remapped | Perfect | NC_000012.12:g.(11 091696_?)_(?_11133 543)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,696 | - | 11,133,543 |
| essv6873672 | Remapped | Perfect | NC_000012.12:g.(11 091761_?)_(?_11133 544)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,091,761 | - | 11,133,544 |
| essv6755536 | Remapped | Perfect | NC_000012.12:g.(11 097955_?)_(?_11137 646)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,097,955 | - | 11,137,646 |
| essv6970793 | Remapped | Perfect | NC_000012.12:g.(11 105925_?)_(?_11106 271)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,925 | - | 11,106,271 |
| essv6815458 | Remapped | Perfect | NC_000012.12:g.(11 105928_?)_(?_11106 269)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,928 | - | 11,106,269 |
| essv6796017 | Remapped | Perfect | NC_000012.12:g.(11 105929_?)_(?_11106 257)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,929 | - | 11,106,257 |
| essv6838611 | Remapped | Perfect | NC_000012.12:g.(11 105931_?)_(?_11106 228)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,931 | - | 11,106,228 |
| essv6885077 | Remapped | Perfect | NC_000012.12:g.(11 105932_?)_(?_11106 231)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,932 | - | 11,106,231 |
| essv6977153 | Remapped | Perfect | NC_000012.12:g.(11 105933_?)_(?_11106 246)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,933 | - | 11,106,246 |
| essv6702438 | Remapped | Perfect | NC_000012.12:g.(11 105933_?)_(?_11106 263)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,933 | - | 11,106,263 |
| essv6812207 | Remapped | Perfect | NC_000012.12:g.(11 105939_?)_(?_11106 229)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,939 | - | 11,106,229 |
| essv6687276 | Remapped | Perfect | NC_000012.12:g.(11 105940_?)_(?_11106 255)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,940 | - | 11,106,255 |
| essv6681562 | Remapped | Perfect | NC_000012.12:g.(11 105940_?)_(?_11106 257)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,940 | - | 11,106,257 |
| essv6894635 | Remapped | Perfect | NC_000012.12:g.(11 105943_?)_(?_11106 228)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,943 | - | 11,106,228 |
| essv6897645 | Remapped | Perfect | NC_000012.12:g.(11 105943_?)_(?_11106 257)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,943 | - | 11,106,257 |
| essv6851152 | Remapped | Perfect | NC_000012.12:g.(11 105944_?)_(?_11106 234)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,944 | - | 11,106,234 |
| essv6791844 | Remapped | Perfect | NC_000012.12:g.(11 105944_?)_(?_11106 245)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,944 | - | 11,106,245 |
| essv6800207 | Remapped | Perfect | NC_000012.12:g.(11 105945_?)_(?_11106 238)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,945 | - | 11,106,238 |
| essv6803492 | Remapped | Perfect | NC_000012.12:g.(11 105945_?)_(?_11106 246)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,945 | - | 11,106,246 |
| essv6720677 | Remapped | Perfect | NC_000012.12:g.(11 105946_?)_(?_11106 241)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,946 | - | 11,106,241 |
| essv6809367 | Remapped | Perfect | NC_000012.12:g.(11 105946_?)_(?_11106 260)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,946 | - | 11,106,260 |
| essv6924332 | Remapped | Perfect | NC_000012.12:g.(11 105947_?)_(?_11106 237)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,947 | - | 11,106,237 |
| essv6959237 | Remapped | Perfect | NC_000012.12:g.(11 105948_?)_(?_11106 267)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,948 | - | 11,106,267 |
| essv6688279 | Remapped | Perfect | NC_000012.12:g.(11 105994_?)_(?_11106 241)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,105,994 | - | 11,106,241 |
| essv6949081 | Submitted genomic | NC_000012.11:g.(11 244034_?)_(?_11286 142)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,034 | - | 11,286,142 | ||
| essv6857174 | Submitted genomic | NC_000012.11:g.(11 244034_?)_(?_11286 154)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,034 | - | 11,286,154 | ||
| essv6706207 | Submitted genomic | NC_000012.11:g.(11 244034_?)_(?_11286 160)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,034 | - | 11,286,160 | ||
| essv6732112 | Submitted genomic | NC_000012.11:g.(11 244137_?)_(?_11286 093)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,137 | - | 11,286,093 | ||
| essv6924331 | Submitted genomic | NC_000012.11:g.(11 244137_?)_(?_11286 159)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,137 | - | 11,286,159 | ||
| essv6876656 | Submitted genomic | NC_000012.11:g.(11 244164_?)_(?_11285 985)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,164 | - | 11,285,985 | ||
| essv6687298 | Submitted genomic | NC_000012.11:g.(11 244175_?)_(?_11286 142)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,175 | - | 11,286,142 | ||
| essv6959239 | Submitted genomic | NC_000012.11:g.(11 244295_?)_(?_11286 142)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,295 | - | 11,286,142 | ||
| essv6873672 | Submitted genomic | NC_000012.11:g.(11 244360_?)_(?_11286 143)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,244,360 | - | 11,286,143 | ||
| essv6755536 | Submitted genomic | NC_000012.11:g.(11 250554_?)_(?_11290 245)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,250,554 | - | 11,290,245 | ||
| essv6970793 | Submitted genomic | NC_000012.11:g.(11 258524_?)_(?_11258 870)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,524 | - | 11,258,870 | ||
| essv6815458 | Submitted genomic | NC_000012.11:g.(11 258527_?)_(?_11258 868)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,527 | - | 11,258,868 | ||
| essv6796017 | Submitted genomic | NC_000012.11:g.(11 258528_?)_(?_11258 856)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,528 | - | 11,258,856 | ||
| essv6838611 | Submitted genomic | NC_000012.11:g.(11 258530_?)_(?_11258 827)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,530 | - | 11,258,827 | ||
| essv6885077 | Submitted genomic | NC_000012.11:g.(11 258531_?)_(?_11258 830)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,531 | - | 11,258,830 | ||
| essv6977153 | Submitted genomic | NC_000012.11:g.(11 258532_?)_(?_11258 845)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,532 | - | 11,258,845 | ||
| essv6702438 | Submitted genomic | NC_000012.11:g.(11 258532_?)_(?_11258 862)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,532 | - | 11,258,862 | ||
| essv6812207 | Submitted genomic | NC_000012.11:g.(11 258538_?)_(?_11258 828)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,538 | - | 11,258,828 | ||
| essv6687276 | Submitted genomic | NC_000012.11:g.(11 258539_?)_(?_11258 854)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,539 | - | 11,258,854 | ||
| essv6681562 | Submitted genomic | NC_000012.11:g.(11 258539_?)_(?_11258 856)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,539 | - | 11,258,856 | ||
| essv6894635 | Submitted genomic | NC_000012.11:g.(11 258542_?)_(?_11258 827)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,542 | - | 11,258,827 | ||
| essv6897645 | Submitted genomic | NC_000012.11:g.(11 258542_?)_(?_11258 856)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,542 | - | 11,258,856 | ||
| essv6851152 | Submitted genomic | NC_000012.11:g.(11 258543_?)_(?_11258 833)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,543 | - | 11,258,833 | ||
| essv6791844 | Submitted genomic | NC_000012.11:g.(11 258543_?)_(?_11258 844)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,543 | - | 11,258,844 | ||
| essv6800207 | Submitted genomic | NC_000012.11:g.(11 258544_?)_(?_11258 837)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,544 | - | 11,258,837 | ||
| essv6803492 | Submitted genomic | NC_000012.11:g.(11 258544_?)_(?_11258 845)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,544 | - | 11,258,845 | ||
| essv6720677 | Submitted genomic | NC_000012.11:g.(11 258545_?)_(?_11258 840)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,545 | - | 11,258,840 | ||
| essv6809367 | Submitted genomic | NC_000012.11:g.(11 258545_?)_(?_11258 859)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,545 | - | 11,258,859 | ||
| essv6924332 | Submitted genomic | NC_000012.11:g.(11 258546_?)_(?_11258 836)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,546 | - | 11,258,836 | ||
| essv6959237 | Submitted genomic | NC_000012.11:g.(11 258547_?)_(?_11258 866)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,547 | - | 11,258,866 | ||
| essv6688279 | Submitted genomic | NC_000012.11:g.(11 258593_?)_(?_11258 840)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,258,593 | - | 11,258,840 |