esv3763200
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:tandem duplication
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:440,441
- Description:
Chr2:g.(15504569_15504589)_(15064149_15064169)dup - 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: 1029 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1029 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3763200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 14,924,025 | 14,924,045 | 15,364,445 | 15,364,465 |
| esv3763200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 15,064,149 | 15,064,169 | 15,504,569 | 15,504,589 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16587144 | tandem duplication | 2196284 | Curated | Curated | 127 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16587144 | Remapped | Perfect | NC_000002.12:g.(14 924025_14924045)_( 15364445_15364465) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 14,924,025 | 14,924,045 | 15,364,445 | 15,364,465 |
| essv16587144 | Submitted genomic | NC_000002.11:g.(15 064149_15064169)_( 15504569_15504589) dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 15,064,149 | 15,064,169 | 15,504,569 | 15,504,589 |