esv2658319
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:25
- Validation:Yes
- Clinical Assertions: No
- Region Size:16,948
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 525 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 962 SVs from 64 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 | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2658319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| esv2658319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5396656 | deletion | SAMN00009151 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 784 |
| essv5428131 | deletion | SAMN00014348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
| essv5649717 | deletion | SAMN00014356 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 777 |
| essv5667428 | deletion | SAMN00014357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 855 |
| essv5692313 | deletion | SAMN00009250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,377 |
| essv5716617 | deletion | SAMN00014327 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,651 |
| essv5718590 | deletion | SAMN00009207 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 657 |
| essv5720547 | deletion | SAMN00009253 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,267 |
| essv5820201 | deletion | SAMN00014396 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 814 |
| essv5847308 | deletion | SAMN00014336 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,557 |
| essv5923772 | deletion | SAMN00014347 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5932085 | deletion | SAMN00014341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv6006660 | deletion | SAMN00014395 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 812 |
| essv6012752 | deletion | SAMN00014312 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,381 |
| essv6116628 | deletion | SAMN00009166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,062 |
| essv6132843 | deletion | SAMN00009248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,270 |
| essv6149443 | deletion | SAMN00009251 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv6163141 | deletion | SAMN00014338 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 736 |
| essv6179475 | deletion | SAMN00009247 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,262 |
| essv6290011 | deletion | SAMN00014345 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,183 |
| essv6313773 | deletion | SAMN00009205 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 813 |
| essv6350849 | deletion | SAMN00009150 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 793 |
| essv6374774 | deletion | SAMN00009254 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,265 |
| essv6397323 | deletion | SAMN00014317 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,665 |
| essv6513195 | deletion | SAMN00009159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,606 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5396656 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5428131 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5649717 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5667428 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5692313 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5716617 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5718590 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5720547 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5820201 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5847308 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5923772 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5932085 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6006660 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6012752 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6116628 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6132843 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6149443 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6163141 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6179475 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6290011 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6313773 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6350849 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6374774 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6397323 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv6513195 | Remapped | Perfect | NC_000009.12:g.(61 538707_61539078)_( 61555284_61555654) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 61,538,707 | 61,539,078 | 61,555,284 | 61,555,654 |
| essv5396656 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5428131 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5649717 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5667428 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5692313 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5716617 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5718590 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5720547 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5820201 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5847308 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5923772 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv5932085 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6006660 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6012752 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6116628 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6132843 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6149443 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6163141 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6179475 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6290011 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6313773 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6350849 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6374774 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6397323 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 | ||
| essv6513195 | Submitted genomic | NC_000009.11:g.(44 746545_44746916)_( 44763122_44763492) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,746,545 | 44,746,916 | 44,763,122 | 44,763,492 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6350849 | 7 | SAMN00009150 | SNP array | Probe signal intensity | Pass |
| essv5396656 | 7 | SAMN00009151 | SNP array | Probe signal intensity | Pass |
| essv6513195 | 7 | SAMN00009159 | SNP array | Probe signal intensity | Pass |
| essv6116628 | 7 | SAMN00009166 | SNP array | Probe signal intensity | Pass |
| essv6313773 | 7 | SAMN00009205 | SNP array | Probe signal intensity | Pass |
| essv5718590 | 7 | SAMN00009207 | SNP array | Probe signal intensity | Pass |
| essv6179475 | 7 | SAMN00009247 | SNP array | Probe signal intensity | Pass |
| essv6132843 | 7 | SAMN00009248 | SNP array | Probe signal intensity | Pass |
| essv5692313 | 7 | SAMN00009250 | SNP array | Probe signal intensity | Pass |
| essv6149443 | 7 | SAMN00009251 | SNP array | Probe signal intensity | Pass |
| essv5720547 | 7 | SAMN00009253 | SNP array | Probe signal intensity | Pass |
| essv6374774 | 7 | SAMN00009254 | SNP array | Probe signal intensity | Pass |
| essv6012752 | 7 | SAMN00014312 | SNP array | Probe signal intensity | Pass |
| essv6397323 | 7 | SAMN00014317 | SNP array | Probe signal intensity | Pass |
| essv5716617 | 7 | SAMN00014327 | SNP array | Probe signal intensity | Pass |
| essv5847308 | 7 | SAMN00014336 | SNP array | Probe signal intensity | Pass |
| essv6163141 | 7 | SAMN00014338 | SNP array | Probe signal intensity | Pass |
| essv5932085 | 7 | SAMN00014341 | SNP array | Probe signal intensity | Pass |
| essv6290011 | 7 | SAMN00014345 | SNP array | Probe signal intensity | Pass |
| essv5923772 | 7 | SAMN00014347 | SNP array | Probe signal intensity | Pass |
| essv5428131 | 7 | SAMN00014348 | SNP array | Probe signal intensity | Pass |
| essv5649717 | 7 | SAMN00014356 | SNP array | Probe signal intensity | Pass |
| essv5667428 | 7 | SAMN00014357 | SNP array | Probe signal intensity | Pass |
| essv6006660 | 7 | SAMN00014395 | SNP array | Probe signal intensity | Pass |
| essv5820201 | 7 | SAMN00014396 | SNP array | Probe signal intensity | Pass |