esv4052
- 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:8,726
- 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: 495 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv4052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 172,503,847 | 172,512,572 |
| esv4052 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 173,424,998 | 173,433,723 |
| esv4052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 173,661,573 | 173,670,298 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26493 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26493 | Remapped | Perfect | NC_000004.12:g.(17 2503847_?)_(?_1725 12572)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 172,503,847 | 172,512,572 |
| essv26493 | Remapped | Perfect | NC_000004.11:g.(17 3424998_?)_(?_1734 33723)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 173,424,998 | 173,433,723 |
| essv26493 | Submitted genomic | NC_000004.10:g.(17 3661573_?)_(?_1736 70298)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 173,661,573 | 173,670,298 |