esv3495463
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Yes
- Clinical Assertions: No
- Region Size:39,016
- 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: 707 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3495463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| esv3495463 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| esv3495463 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9198283 | deletion | SAMN00001625 | Sequencing | Paired-end mapping | 10,737 |
| essv9198284 | deletion | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
| essv9198285 | deletion | SAMN00001576 | Sequencing | Paired-end mapping | 3,660 |
| essv9198286 | deletion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv9198287 | deletion | SAMN00001584 | Sequencing | Paired-end mapping | 11,452 |
| essv9198288 | deletion | SAMN00001670 | Sequencing | Paired-end mapping | 4,622 |
| essv9198289 | deletion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
| essv9198290 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 12,092 |
| essv9198291 | deletion | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv9198293 | deletion | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
| essv9198294 | deletion | SAMN00001581 | Sequencing | Paired-end mapping | 12,254 |
| essv9198295 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv9198283 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198284 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198285 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198286 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198287 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198288 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198289 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198290 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198291 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198293 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198294 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198295 | Remapped | Perfect | NC_000012.12:g.(11 363161_11363557)_( 11402170_11402573) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,363,361 (-200, +196) | 11,402,376 (-206, +197) |
| essv9198283 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198284 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198285 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198286 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198287 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198288 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198289 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198290 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198291 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198293 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198294 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198295 | Remapped | Perfect | NC_000012.11:g.(11 516095_11516491)_( 11555104_11555507) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 11,516,295 (-200, +196) | 11,555,310 (-206, +197) |
| essv9198283 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198284 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198285 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198286 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198287 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198288 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198289 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198290 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198291 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198293 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198294 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) | ||
| essv9198295 | Submitted genomic | NC_000012.10:g.(11 407362_11407758)_( 11446371_11446774) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 11,407,562 (-200, +196) | 11,446,577 (-206, +197) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9198295 | 36 | SAMN00001544 | Digital array | Other | Pass |
| essv9198295 | 38 | SAMN00001544 | Digital array | Other | Pass |
| essv9198285 | 36 | SAMN00001576 | Digital array | Other | Pass |
| essv9198285 | 38 | SAMN00001576 | Digital array | Other | Pass |
| essv9198294 | 36 | SAMN00001581 | Digital array | Other | Pass |
| essv9198294 | 38 | SAMN00001581 | Digital array | Other | Pass |
| essv9198290 | 36 | SAMN00001583 | Digital array | Other | Pass |
| essv9198290 | 38 | SAMN00001583 | Digital array | Other | Pass |
| essv9198287 | 36 | SAMN00001584 | Digital array | Other | Pass |
| essv9198287 | 38 | SAMN00001584 | Digital array | Other | Pass |
| essv9198284 | 36 | SAMN00001591 | Digital array | Other | Pass |
| essv9198284 | 38 | SAMN00001591 | Digital array | Other | Pass |
| essv9198283 | 36 | SAMN00001625 | Digital array | Other | Pass |
| essv9198283 | 38 | SAMN00001625 | Digital array | Other | Pass |
| essv9198291 | 36 | SAMN00001632 | Digital array | Other | Pass |
| essv9198291 | 38 | SAMN00001632 | Digital array | Other | Pass |
| essv9198288 | 36 | SAMN00001670 | Digital array | Other | Pass |
| essv9198288 | 38 | SAMN00001670 | Digital array | Other | Pass |
| essv9198289 | 36 | SAMN00001694 | Digital array | Other | Pass |
| essv9198289 | 38 | SAMN00001694 | Digital array | Other | Pass |
| essv9198286 | 36 | SAMN00001696 | Digital array | Other | Pass |
| essv9198286 | 38 | SAMN00001696 | Digital array | Other | Pass |
| essv9198293 | 36 | SAMN00801680 | Digital array | Other | Pass |
| essv9198293 | 38 | SAMN00801680 | Digital array | Other | Pass |