esv3814158
- 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:372,563
- Description:
Chr4:g.(125995630_125995650)_(126368172_126368192)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: 892 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 62 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3814158 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 125,074,475 | 125,074,495 | 125,447,017 | 125,447,037 |
esv3814158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 125,995,630 | 125,995,650 | 126,368,172 | 126,368,192 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16643925 | deletion | 2196811 | Curated | Curated | 123 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16643925 | Remapped | Perfect | NC_000004.12:g.(12 5074475_125074495) _(125447017_125447 037)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 125,074,475 | 125,074,495 | 125,447,017 | 125,447,037 |
essv16643925 | Submitted genomic | NC_000004.11:g.(12 5995630_125995650) _(126368172_126368 192)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 125,995,630 | 125,995,650 | 126,368,172 | 126,368,192 |