esv2421998
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,166
- 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: 386 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| esv2421998 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| esv2421998 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5008035 | deletion | NA19374 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5015362 | deletion | NA21336 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5020772 | deletion | NA20359 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5033052 | deletion | NA19108 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5044644 | deletion | NA19373 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5047288 | deletion | NA19708 | SNP array | SNP genotyping analysis | 1 | 156 |
| essv5055847 | deletion | NA19109 | SNP array | SNP genotyping analysis | 1 | 168 |
| essv5065018 | deletion | NA19102 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5071352 | deletion | NA19449 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5073059 | deletion | NA21318 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5075375 | deletion | NA21316 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5104039 | deletion | NA18852 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5106831 | deletion | NA18910 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5123801 | deletion | NA19103 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5124536 | deletion | NA19127 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5127345 | deletion | NA19404 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5130223 | deletion | NA21600 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5132558 | deletion | NA21385 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5135393 | deletion | NA18911 | SNP array | SNP genotyping analysis | 1 | 158 |
| essv5139606 | deletion | NA19181 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5140075 | deletion | NA19384 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5160590 | deletion | NA21317 | SNP array | SNP genotyping analysis | 1 | 142 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5008035 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5015362 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5020772 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5033052 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5044644 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5047288 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5055847 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5065018 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5071352 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5073059 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5075375 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5104039 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5106831 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5123801 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5124536 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5127345 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5130223 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5132558 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5135393 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5139606 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5140075 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5160590 | Remapped | Perfect | NC_000001.11:g.(?_ 105622242)_(105672 407_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,622,242 | 105,672,407 |
| essv5008035 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5015362 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5020772 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5033052 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5044644 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5047288 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5055847 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5065018 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5071352 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5073059 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5075375 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5104039 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5106831 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5123801 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5124536 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5127345 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5130223 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5132558 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5135393 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5139606 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5140075 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5160590 | Remapped | Perfect | NC_000001.10:g.(?_ 106164864)_(106215 029_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,864 | 106,215,029 |
| essv5008035 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5015362 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5020772 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5033052 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5044644 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5047288 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5055847 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5065018 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5071352 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5073059 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5075375 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5104039 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5106831 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5123801 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5124536 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5127345 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5130223 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5132558 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5135393 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5139606 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5140075 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 | ||
| essv5160590 | Submitted genomic | NC_000001.9:g.(?_1 05966387)_(1060165 52_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,966,387 | 106,016,552 |