esv3794222
- 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:515,232
- Description:
Chr13:g.(104909423_104909443)_(104394212_104394232)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: 1503 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1503 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3794222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 103,741,862 | 103,741,882 | 104,257,073 | 104,257,093 |
| esv3794222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 104,394,212 | 104,394,232 | 104,909,423 | 104,909,443 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16621627 | tandem duplication | 2196368 | Curated | Curated | 236 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16621627 | Remapped | Perfect | NC_000013.11:g.(10 3741862_103741882) _(104257073_104257 093)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 103,741,862 | 103,741,882 | 104,257,073 | 104,257,093 |
| essv16621627 | Submitted genomic | NC_000013.10:g.(10 4394212_104394232) _(104909423_104909 443)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 104,394,212 | 104,394,232 | 104,909,423 | 104,909,443 |