esv3777022
- 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:362,466
- Description:
Chr19:g.(31115959_31115979)_(30753514_30753534)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: 831 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 831 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3777022 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 30,262,607 | 30,262,627 | 30,625,052 | 30,625,072 |
| esv3777022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 30,753,514 | 30,753,534 | 31,115,959 | 31,115,979 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16602519 | tandem duplication | 2196232 | Curated | Curated | 332 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16602519 | Remapped | Perfect | NC_000019.10:g.(30 262607_30262627)_( 30625052_30625072) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 30,262,607 | 30,262,627 | 30,625,052 | 30,625,072 |
| essv16602519 | Submitted genomic | NC_000019.9:g.(307 53514_30753534)_(3 1115959_31115979)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 30,753,514 | 30,753,534 | 31,115,959 | 31,115,979 |