esv2720495
- 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:218,400
- 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: 1314 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1314 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2720495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,356,890 | 189,575,289 |
| esv2720495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,326,020 | 189,544,419 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6933446 | deletion | SSM021 | Sequencing | Paired-end mapping | 3,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6933446 | Remapped | Perfect | NC_000001.11:g.(18 9356890_?)_(?_1895 75289)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,356,890 | 189,575,289 |
| essv6933446 | Submitted genomic | NC_000001.10:g.(18 9326020_?)_(?_1895 44419)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,326,020 | 189,544,419 |