esv2422045
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,012
- 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: 269 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| esv2422045 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| esv2422045 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| esv2422045 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| esv2422045 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5003371 | deletion | NA21142 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5009249 | deletion | NA19144 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5013571 | deletion | NA19456 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5043265 | deletion | NA19080 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5044705 | deletion | NA18645 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5083973 | deletion | NA18518 | SNP array | SNP genotyping analysis | 1 | 153 |
| essv5085092 | deletion | NA18128 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5087984 | deletion | NA18619 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5093016 | deletion | NA20539 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5103119 | deletion | NA18520 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5122025 | deletion | NA19725 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5126521 | deletion | NA19072 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5144795 | deletion | NA20883 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5158526 | deletion | NA18748 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5160345 | deletion | NA19005 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5160385 | deletion | NA21144 | SNP array | SNP genotyping analysis | 1 | 127 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5003371 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5009249 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5013571 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5043265 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5044705 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5083973 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5085092 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5087984 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5093016 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5103119 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5122025 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5126521 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5144795 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5158526 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5160345 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5160385 | Remapped | Good | NT_167245.2:g.(?_3 151482)_(3158493_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,151,482 | 3,158,493 |
| essv5003371 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5009249 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5013571 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5043265 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5044705 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5083973 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5085092 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5087984 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5093016 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5103119 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5122025 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5126521 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5144795 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5158526 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5160345 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5160385 | Remapped | Perfect | NC_000006.12:g.(?_ 31903708)_(3191071 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,903,708 | 31,910,718 |
| essv5003371 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5009249 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5013571 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5043265 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5044705 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5083973 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5085092 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5087984 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5093016 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5103119 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5122025 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5126521 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5144795 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5158526 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5160345 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5160385 | Remapped | Good | NT_167245.1:g.(?_3 157067)_(3164078_? )delNT_167245.1:g. (?_3157067)_(31640 78_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,157,067 | 3,164,078 |
| essv5003371 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5009249 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5013571 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5043265 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5044705 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5083973 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5085092 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5087984 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5093016 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5103119 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5122025 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5126521 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5144795 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5158526 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5160345 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5160385 | Remapped | Perfect | NC_000006.11:g.(?_ 31871485)_(3187849 5_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,871,485 | 31,878,495 |
| essv5003371 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5009249 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5013571 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5043265 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5044705 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5083973 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5085092 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5087984 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5093016 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5103119 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5122025 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5126521 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5144795 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5158526 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5160345 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 | ||
| essv5160385 | Submitted genomic | NC_000006.10:g.(?_ 31979464)_(3198647 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,979,464 | 31,986,474 |