esv2421774
- 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:10,174
- 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: 176 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| esv2421774 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| esv2421774 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5007914 | deletion | NA07347 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5021658 | deletion | NA21097 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5024394 | deletion | NA21635 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5030208 | deletion | NA21611 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5032099 | deletion | NA21582 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5048897 | deletion | NA20849 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5051902 | deletion | NA20517 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5058752 | deletion | NA12815 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5066211 | deletion | NA12489 | SNP array | SNP genotyping analysis | 1 | 114 |
| essv5075469 | deletion | NA21636 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5088999 | deletion | NA20797 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5089257 | deletion | NA20809 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5090765 | deletion | NA21390 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5095877 | deletion | NA07056 | SNP array | SNP genotyping analysis | 1 | 122 |
| essv5106432 | deletion | NA12376 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5107721 | deletion | NA20892 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5125883 | deletion | NA19751 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5128168 | deletion | NA20297 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5131773 | deletion | NA06986 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5134762 | deletion | NA21619 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5143377 | deletion | NA19749 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5151160 | deletion | NA21105 | SNP array | SNP genotyping analysis | 1 | 119 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5007914 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5021658 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5024394 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5030208 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5032099 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5048897 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5051902 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5058752 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5066211 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5075469 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5088999 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5089257 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5090765 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5095877 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5106432 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5107721 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5125883 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5128168 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5131773 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5134762 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5143377 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5151160 | Remapped | Perfect | NC_000007.14:g.(?_ 48542256)_(4855242 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,542,256 | 48,552,429 |
| essv5007914 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5021658 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5024394 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5030208 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5032099 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5048897 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5051902 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5058752 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5066211 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5075469 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5088999 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5089257 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5090765 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5095877 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5106432 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5107721 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5125883 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5128168 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5131773 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5134762 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5143377 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5151160 | Remapped | Perfect | NC_000007.13:g.(?_ 48581852)_(4859202 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,581,852 | 48,592,025 |
| essv5007914 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5021658 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5024394 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5030208 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5032099 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5048897 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5051902 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5058752 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5066211 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5075469 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5088999 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5089257 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5090765 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5095877 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5106432 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5107721 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5125883 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5128168 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5131773 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5134762 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5143377 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 | ||
| essv5151160 | Submitted genomic | NC_000007.12:g.(?_ 48552398)_(4856257 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,552,398 | 48,562,571 |