esv3788639
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:438,004
- Description:
Chr4:g.(116117730_116117750)_(116555713_116555733)del - Publication(s):Forbes et al. 2008, Forbes 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: 1518 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1518 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3788639 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 115,196,574 | 115,196,594 | 115,634,557 | 115,634,577 |
| esv3788639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 116,117,730 | 116,117,750 | 116,555,713 | 116,555,733 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16615419 | deletion | 2196616 | Curated | Curated | 100 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16615419 | Remapped | Perfect | NC_000004.12:g.(11 5196574_115196594) _(115634557_115634 577)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 115,196,574 | 115,196,594 | 115,634,557 | 115,634,577 |
| essv16615419 | Submitted genomic | NC_000004.11:g.(11 6117730_116117750) _(116555713_116555 733)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 116,117,730 | 116,117,750 | 116,555,713 | 116,555,733 |