esv2421393
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,197
- 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: 500 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 500 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| esv2421393 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| esv2421393 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5010915 | deletion | NA11831 | SNP array | SNP genotyping analysis | 1 | 110 |
| essv5046455 | deletion | NA19463 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5079856 | deletion | NA19431 | SNP array | SNP genotyping analysis | 1 | 157 |
| essv5083963 | deletion | NA21378 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5090189 | deletion | NA19394 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5090368 | deletion | NA17980 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5093258 | deletion | NA19044 | SNP array | SNP genotyping analysis | 0 | 157 |
| essv5110231 | deletion | NA19036 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5110911 | deletion | NA12343 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5115922 | deletion | NA18133 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5115950 | deletion | NA21493 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5116315 | deletion | NA21453 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5121279 | deletion | NA20805 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5132057 | deletion | NA18872 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5139764 | deletion | NA17982 | SNP array | SNP genotyping analysis | 1 | 122 |
| essv5141215 | deletion | NA18870 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5147789 | deletion | NA21447 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5149461 | deletion | NA20795 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5156977 | deletion | NA21448 | SNP array | SNP genotyping analysis | 1 | 139 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5010915 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5046455 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5079856 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5083963 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5090189 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5090368 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5093258 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5110231 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5110911 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5115922 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5115950 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5116315 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5121279 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5132057 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5139764 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5141215 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5147789 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5149461 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5156977 | Remapped | Perfect | NC_000002.12:g.(?_ 87146770)_(8718996 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,146,770 | 87,189,966 |
| essv5010915 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5046455 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5079856 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5083963 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5090189 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5090368 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5093258 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5110231 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5110911 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5115922 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5115950 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5116315 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5121279 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5132057 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5139764 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5141215 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5147789 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5149461 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5156977 | Remapped | Perfect | NC_000002.11:g.(?_ 87373893)_(8741708 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,373,893 | 87,417,089 |
| essv5010915 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5046455 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5079856 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5083963 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5090189 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5090368 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5093258 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5110231 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5110911 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5115922 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5115950 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5116315 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5121279 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5132057 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5139764 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5141215 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5147789 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5149461 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 | ||
| essv5156977 | Submitted genomic | NC_000002.10:g.(?_ 87227404)_(8727060 0_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 87,227,404 | 87,270,600 |