esv4691
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,695
- Publication(s):Wang et al. 2008
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: 626 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 626 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 357 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4691 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 105,473,163 | 105,480,857 |
| esv4691 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 106,015,785 | 106,023,479 |
| esv4691 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 105,817,308 | 105,825,002 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv27132 | copy number loss | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv27132 | Remapped | Perfect | NC_000001.11:g.(10 5473163_?)_(?_1054 80857)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,473,163 | 105,480,857 |
| essv27132 | Remapped | Perfect | NC_000001.10:g.(10 6015785_?)_(?_1060 23479)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,015,785 | 106,023,479 |
| essv27132 | Submitted genomic | NC_000001.9:g.(105 817308_?)_(?_10582 5002)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,817,308 | 105,825,002 |