esv3799055
- 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:518,638
- Description:
Chr18:g.(25970966_25970986)_(25452349_25452369)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: 1257 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1257 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3799055 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 27,872,385 | 27,872,405 | 28,391,002 | 28,391,022 |
| esv3799055 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 25,452,349 | 25,452,369 | 25,970,966 | 25,970,986 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16627128 | tandem duplication | 2196360 | Curated | Curated | 396 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16627128 | Remapped | Perfect | NC_000018.10:g.(27 872385_27872405)_( 28391002_28391022) dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 27,872,385 | 27,872,405 | 28,391,002 | 28,391,022 |
| essv16627128 | Submitted genomic | NC_000018.9:g.(254 52349_25452369)_(2 5970966_25970986)d up | GRCh37 (hg19) | NC_000018.9 | Chr18 | 25,452,349 | 25,452,369 | 25,970,966 | 25,970,986 |