esv2763798
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:293,214
- Publication(s):Vogler 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: 1299 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1299 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv2763798 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 167,778,077 | 168,071,290 |
esv2763798 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 168,699,228 | 168,992,441 |
esv2763798 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 168,935,803 | 169,229,016 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7030288 | copy number loss | SW_0058 | SNP array | SNP genotyping analysis | 39 |
essv7030289 | copy number loss | SW_0148 | SNP array | SNP genotyping analysis | 43 |
essv7030291 | copy number loss | SW_0678 | SNP array | SNP genotyping analysis | 29 |
essv7030292 | copy number loss | SW_1334 | SNP array | SNP genotyping analysis | 33 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv7030288 | Remapped | Perfect | NC_000004.12:g.(?_ 167778077)_(167908 751_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,778,077 | 167,908,751 |
essv7030289 | Remapped | Perfect | NC_000004.12:g.(?_ 167887449)_(168071 290_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,449 | 168,071,290 |
essv7030291 | Remapped | Perfect | NC_000004.12:g.(?_ 167887449)_(168071 290_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,449 | 168,071,290 |
essv7030292 | Remapped | Perfect | NC_000004.12:g.(?_ 167887449)_(168071 290_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 167,887,449 | 168,071,290 |
essv7030288 | Remapped | Perfect | NC_000004.11:g.(?_ 168699228)_(168829 902_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,699,228 | 168,829,902 |
essv7030289 | Remapped | Perfect | NC_000004.11:g.(?_ 168808600)_(168992 441_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,808,600 | 168,992,441 |
essv7030291 | Remapped | Perfect | NC_000004.11:g.(?_ 168808600)_(168992 441_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,808,600 | 168,992,441 |
essv7030292 | Remapped | Perfect | NC_000004.11:g.(?_ 168808600)_(168992 441_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 168,808,600 | 168,992,441 |
essv7030288 | Submitted genomic | NC_000004.10:g.(?_ 168935803)_(169066 477_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 168,935,803 | 169,066,477 | ||
essv7030289 | Submitted genomic | NC_000004.10:g.(?_ 169045175)_(169229 016_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,045,175 | 169,229,016 | ||
essv7030291 | Submitted genomic | NC_000004.10:g.(?_ 169045175)_(169229 016_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,045,175 | 169,229,016 | ||
essv7030292 | Submitted genomic | NC_000004.10:g.(?_ 169045175)_(169229 016_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 169,045,175 | 169,229,016 |