esv2161601
- Organism: Homo sapiens
- Study:estd194 (Bentley et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,002
- Publication(s):Bentley 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: 140 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2161601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 136,279,795 | 136,279,877 | 136,289,710 | 136,289,796 |
| esv2161601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 136,600,933 | 136,601,015 | 136,610,848 | 136,610,934 |
| esv2161601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 136,642,626 | 136,642,708 | 136,652,541 | 136,652,627 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4680019 | Remapped | Perfect | NC_000006.12:g.(13 6279795_136279877) _(136289710_136289 796)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 136,279,795 | 136,279,877 | 136,289,710 | 136,289,796 |
| essv4680019 | Remapped | Perfect | NC_000006.11:g.(13 6600933_136601015) _(136610848_136610 934)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 136,600,933 | 136,601,015 | 136,610,848 | 136,610,934 |
| essv4680019 | Submitted genomic | NC_000006.10:g.(13 6642626_136642708) _(136652541_136652 627)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 136,642,626 | 136,642,708 | 136,652,541 | 136,652,627 |