esv3788581
- 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:441,635
- Description:
Chr3:g.(165681414_165681434)_(165239800_165239820)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: 1414 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1414 SVs from 90 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3788581 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,522,012 | 165,522,032 | 165,963,626 | 165,963,646 |
esv3788581 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,239,800 | 165,239,820 | 165,681,414 | 165,681,434 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16615359 | tandem duplication | 2186064 | Curated | Curated | 675 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16615359 | Remapped | Perfect | NC_000003.12:g.(16 5522012_165522032) _(165963626_165963 646)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,522,012 | 165,522,032 | 165,963,626 | 165,963,646 |
essv16615359 | Submitted genomic | NC_000003.11:g.(16 5239800_165239820) _(165681414_165681 434)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,239,800 | 165,239,820 | 165,681,414 | 165,681,434 |