esv1001714
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,795
- Publication(s):Pang et al. 2010
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: 485 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv1001714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 76,726,127 | 76,751,921 |
| esv1001714 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 77,435,844 | 77,461,638 |
| esv1001714 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 77,492,563 | 77,518,357 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv3563541 | Remapped | Perfect | NC_000006.12:g.(76 726127_?)_(?_76751 921)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,726,127 | 76,751,921 |
| essv3563541 | Remapped | Perfect | NC_000006.11:g.(77 435844_?)_(?_77461 638)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 77,435,844 | 77,461,638 |
| essv3563541 | Submitted genomic | NC_000006.10:g.(77 492563_?)_(?_77518 357)del22383 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 77,492,563 | 77,518,357 |