esv2421349
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,637
- 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: 845 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 845 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| esv2421349 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| esv2421349 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5006073 | duplication | NA19352 | SNP array | SNP genotyping analysis | 3 | 135 |
| essv5010547 | duplication | NA19762 | SNP array | SNP genotyping analysis | 3 | 127 |
| essv5022001 | duplication | NA19190 | SNP array | SNP genotyping analysis | 3 | 160 |
| essv5049717 | duplication | NA12718 | SNP array | SNP genotyping analysis | 3 | 134 |
| essv5051761 | duplication | NA18508 | SNP array | SNP genotyping analysis | 3 | 153 |
| essv5070907 | duplication | NA19175 | SNP array | SNP genotyping analysis | 3 | 138 |
| essv5080589 | duplication | NA21693 | SNP array | SNP genotyping analysis | 3 | 144 |
| essv5106414 | duplication | NA18860 | SNP array | SNP genotyping analysis | 3 | 135 |
| essv5113921 | duplication | NA19107 | SNP array | SNP genotyping analysis | 3 | 152 |
| essv5114429 | duplication | NA18858 | SNP array | SNP genotyping analysis | 3 | 141 |
| essv5118389 | duplication | NA18916 | SNP array | SNP genotyping analysis | 4 | 148 |
| essv5141813 | duplication | NA19434 | SNP array | SNP genotyping analysis | 3 | 137 |
| essv5146671 | duplication | NA19763 | SNP array | SNP genotyping analysis | 3 | 125 |
| essv5151699 | duplication | NA19143 | SNP array | SNP genotyping analysis | 3 | 143 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5006073 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5010547 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5022001 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5049717 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5051761 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5070907 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5080589 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5106414 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5113921 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5114429 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5118389 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5141813 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5146671 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5151699 | Remapped | Perfect | NC_000011.10:g.(?_ 134710420)_(134733 056_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,710,420 | 134,733,056 |
| essv5006073 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5010547 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5022001 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5049717 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5051761 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5070907 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5080589 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5106414 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5113921 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5114429 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5118389 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5141813 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5146671 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5151699 | Remapped | Perfect | NC_000011.9:g.(?_1 34580314)_(1346029 50_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,580,314 | 134,602,950 |
| essv5006073 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5010547 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5022001 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5049717 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5051761 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5070907 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5080589 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5106414 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5113921 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5114429 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5118389 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5141813 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5146671 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 | ||
| essv5151699 | Submitted genomic | NC_000011.8:g.(?_1 34085524)_(1341081 60_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 134,085,524 | 134,108,160 |