esv2422159
- 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:11,890
- 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: 152 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422159 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| esv2422159 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| esv2422159 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5017606 | deletion | NA19141 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5029138 | deletion | NA18852 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5032612 | deletion | NA18917 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5049438 | deletion | NA19142 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5055916 | deletion | NA19150 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5064672 | deletion | NA19119 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5067271 | deletion | NA21408 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5070446 | deletion | NA19151 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5073184 | deletion | NA19172 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5081269 | deletion | NA19439 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5085743 | deletion | NA18930 | SNP array | SNP genotyping analysis | 1 | 158 |
| essv5107876 | deletion | NA19308 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5139011 | deletion | NA20290 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5142680 | deletion | NA21447 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5142889 | deletion | NA21440 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5147834 | deletion | NA21439 | SNP array | SNP genotyping analysis | 1 | 146 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5017606 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5029138 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5032612 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5049438 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5055916 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5064672 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5067271 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5070446 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5073184 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5081269 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5085743 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5107876 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5139011 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5142680 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5142889 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5147834 | Remapped | Perfect | NC_000014.9:g.(?_6 1365142)_(61377031 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 61,365,142 | 61,377,031 |
| essv5017606 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5029138 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5032612 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5049438 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5055916 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5064672 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5067271 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5070446 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5073184 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5081269 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5085743 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5107876 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5139011 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5142680 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5142889 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5147834 | Remapped | Perfect | NC_000014.8:g.(?_6 1831860)_(61843749 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 61,831,860 | 61,843,749 |
| essv5017606 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5029138 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5032612 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5049438 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5055916 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5064672 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5067271 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5070446 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5073184 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5081269 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5085743 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5107876 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5139011 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5142680 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5142889 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 | ||
| essv5147834 | Submitted genomic | NC_000014.7:g.(?_6 0901613)_(60913502 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 60,901,613 | 60,913,502 |