esv3766700
- 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:407,860
- Description:
Chr2:g.(50379340_50379360)_(50787179_50787199)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: 1262 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1262 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3766700 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,152,202 | 50,152,222 | 50,560,041 | 50,560,061 |
| esv3766700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,379,340 | 50,379,360 | 50,787,179 | 50,787,199 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16591014 | deletion | 2121176 | Curated | Curated | 230 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16591014 | Remapped | Perfect | NC_000002.12:g.(50 152202_50152222)_( 50560041_50560061) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,152,202 | 50,152,222 | 50,560,041 | 50,560,061 |
| essv16591014 | Submitted genomic | NC_000002.11:g.(50 379340_50379360)_( 50787179_50787199) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,379,340 | 50,379,360 | 50,787,179 | 50,787,199 |