esv2421817
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,346
- 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: 174 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 45 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2421817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| esv2421817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| esv2421817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5011872 | deletion | NA21678 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5013954 | deletion | NA19382 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5020745 | deletion | NA19183 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5026307 | deletion | NA19147 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5029381 | deletion | NA19391 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5029466 | deletion | NA21423 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5047464 | deletion | NA18934 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5049631 | deletion | NA21314 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5050376 | deletion | NA18871 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5054987 | deletion | NA19653 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5065511 | deletion | NA19095 | SNP array | SNP genotyping analysis | 1 | 158 |
| essv5086528 | deletion | NA18484 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5089084 | deletion | NA20349 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5091600 | deletion | NA19652 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5096869 | deletion | NA21600 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5099160 | deletion | NA21524 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5107430 | deletion | NA20350 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5107526 | deletion | NA19098 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5116624 | deletion | NA19318 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5120723 | deletion | NA21320 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5123654 | deletion | NA21635 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5124475 | deletion | NA19181 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5134189 | deletion | NA19097 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5137117 | deletion | NA18935 | SNP array | SNP genotyping analysis | 1 | 162 |
| essv5138201 | deletion | NA18488 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5158236 | deletion | NA19712 | SNP array | SNP genotyping analysis | 1 | 150 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5011872 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5013954 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5020745 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5026307 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5029381 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5029466 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5047464 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5049631 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5050376 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5054987 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5065511 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5086528 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5089084 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5091600 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5096869 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5099160 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5107430 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5107526 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5116624 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5120723 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5123654 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5124475 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5134189 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5137117 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5138201 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5158236 | Remapped | Perfect | NC_000003.12:g.(?_ 41738655)_(4174700 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,738,655 | 41,747,000 |
| essv5011872 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5013954 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5020745 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5026307 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5029381 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5029466 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5047464 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5049631 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5050376 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5054987 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5065511 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5086528 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5089084 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5091600 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5096869 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5099160 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5107430 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5107526 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5116624 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5120723 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5123654 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5124475 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5134189 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5137117 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5138201 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5158236 | Remapped | Perfect | NC_000003.11:g.(?_ 41780147)_(4178849 2_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,780,147 | 41,788,492 |
| essv5011872 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5013954 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5020745 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5026307 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5029381 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5029466 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5047464 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5049631 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5050376 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5054987 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5065511 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5086528 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5089084 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5091600 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5096869 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5099160 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5107430 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5107526 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5116624 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5120723 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5123654 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5124475 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5134189 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5137117 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5138201 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 | ||
| essv5158236 | Submitted genomic | NC_000003.10:g.(?_ 41755151)_(4176349 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,755,151 | 41,763,496 |