esv2720090
- 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:43,577
- 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: 192 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2720090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 55,792,550 | 55,836,126 |
| esv2720090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 56,019,685 | 56,063,261 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6733696 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6733696 | Remapped | Perfect | NC_000002.12:g.(55 792550_?)_(?_55836 126)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 55,792,550 | 55,836,126 |
| essv6733696 | Submitted genomic | NC_000002.11:g.(56 019685_?)_(?_56063 261)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,019,685 | 56,063,261 |