esv2422015
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,020
- Publication(s):International HapMap 3 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: 251 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 251 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2422015 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| esv2422015 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| esv2422015 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5004967 | deletion | NA18696 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5017288 | deletion | NA19780 | SNP array | SNP genotyping analysis | 1 | 111 |
| essv5018187 | deletion | NA18740 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5065767 | deletion | NA18573 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5071315 | deletion | NA18129 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5075312 | deletion | NA18749 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5080118 | deletion | NA18544 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5094697 | deletion | NA18993 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5100125 | deletion | NA18596 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5124414 | deletion | NA18102 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5136360 | deletion | NA18605 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5147420 | deletion | NA18101 | SNP array | SNP genotyping analysis | 1 | 140 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5004967 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5017288 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5018187 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5065767 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5071315 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5075312 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5080118 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5094697 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5100125 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5124414 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5136360 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5147420 | Remapped | Perfect | NC_000002.12:g.(?_ 193716629)_(193733 648_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 193,716,629 | 193,733,648 |
| essv5004967 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5017288 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5018187 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5065767 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5071315 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5075312 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5080118 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5094697 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5100125 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5124414 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5136360 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5147420 | Remapped | Perfect | NC_000002.11:g.(?_ 194581353)_(194598 372_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,581,353 | 194,598,372 |
| essv5004967 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5017288 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5018187 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5065767 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5071315 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5075312 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5080118 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5094697 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5100125 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5124414 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5136360 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 | ||
| essv5147420 | Submitted genomic | NC_000002.10:g.(?_ 194289598)_(194306 617_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 194,289,598 | 194,306,617 |