esv2742014
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,539
- Publication(s):Wong et al. 2013
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: 2709 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2709 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2742014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,916,515 | 30,002,053 |
| esv2742014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,884,292 | 29,969,830 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6811268 | deletion | SSM076 | Sequencing | Paired-end mapping | 2,535 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6811268 | Remapped | Perfect | NC_000006.12:g.(29 916515_?)_(?_30002 053)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,916,515 | 30,002,053 |
| essv6811268 | Submitted genomic | NC_000006.11:g.(29 884292_?)_(?_29969 830)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,884,292 | 29,969,830 |