esv3494596
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Fail
- Clinical Assertions: No
- Region Size:17,306
- 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: 236 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3494596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| esv3494596 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| esv3494596 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8856575 | deletion | SAMN00001556 | Sequencing | Paired-end mapping | 17,127 |
| essv8856576 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv8856577 | deletion | SAMN00800945 | Sequencing | Paired-end mapping | 6,568 |
| essv8856578 | deletion | SAMN00797419 | Sequencing | Paired-end mapping | 10,938 |
| essv8856579 | deletion | SAMN00001544 | Sequencing | Paired-end mapping | 15,303 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8856575 | Remapped | Perfect | NC_000012.12:g.(13 2490783_132490899) _(132508088_132508 187)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| essv8856576 | Remapped | Perfect | NC_000012.12:g.(13 2490783_132490899) _(132508088_132508 187)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| essv8856577 | Remapped | Perfect | NC_000012.12:g.(13 2490783_132490899) _(132508088_132508 187)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| essv8856578 | Remapped | Perfect | NC_000012.12:g.(13 2490783_132490899) _(132508088_132508 187)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| essv8856579 | Remapped | Perfect | NC_000012.12:g.(13 2490783_132490899) _(132508088_132508 187)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,490,852 (-69, +47) | 132,508,157 (-69, +30) |
| essv8856575 | Remapped | Perfect | NC_000012.11:g.(13 3067369_133067485) _(133084674_133084 773)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| essv8856576 | Remapped | Perfect | NC_000012.11:g.(13 3067369_133067485) _(133084674_133084 773)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| essv8856577 | Remapped | Perfect | NC_000012.11:g.(13 3067369_133067485) _(133084674_133084 773)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| essv8856578 | Remapped | Perfect | NC_000012.11:g.(13 3067369_133067485) _(133084674_133084 773)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| essv8856579 | Remapped | Perfect | NC_000012.11:g.(13 3067369_133067485) _(133084674_133084 773)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,067,438 (-69, +47) | 133,084,743 (-69, +30) |
| essv8856575 | Submitted genomic | NC_000012.10:g.(13 1577442_131577558) _(131594747_131594 846)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) | ||
| essv8856576 | Submitted genomic | NC_000012.10:g.(13 1577442_131577558) _(131594747_131594 846)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) | ||
| essv8856577 | Submitted genomic | NC_000012.10:g.(13 1577442_131577558) _(131594747_131594 846)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) | ||
| essv8856578 | Submitted genomic | NC_000012.10:g.(13 1577442_131577558) _(131594747_131594 846)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) | ||
| essv8856579 | Submitted genomic | NC_000012.10:g.(13 1577442_131577558) _(131594747_131594 846)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 131,577,511 (-69, +47) | 131,594,816 (-69, +30) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8856579 | 36 | SAMN00001544 | Digital array | Other | Fail |
| essv8856579 | 38 | SAMN00001544 | Digital array | Other | Fail |
| essv8856575 | 36 | SAMN00001556 | Digital array | Other | Fail |
| essv8856575 | 38 | SAMN00001556 | Digital array | Other | Fail |
| essv8856578 | 36 | SAMN00797419 | Digital array | Other | Fail |
| essv8856578 | 38 | SAMN00797419 | Digital array | Other | Fail |
| essv8856576 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv8856576 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv8856577 | 36 | SAMN00800945 | Digital array | Other | Fail |
| essv8856577 | 38 | SAMN00800945 | Digital array | Other | Fail |