esv2200434
- 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:1
- 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: 122 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2200434 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 129,147,146 | 129,147,146 |
| esv2200434 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 128,786,986 | 128,786,987 |
| esv2200434 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 128,574,222 | 128,574,223 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv4910382 | Remapped | Pass | NC_000007.14:g.129 147146delC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,147,146 | 129,147,146 |
| essv4910382 | Remapped | Perfect | NC_000007.13:g.128 786986_128786987de lC | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 128,786,986 | 128,786,987 |
| essv4910382 | Submitted genomic | NC_000007.12:g.128 574222_128574223de lC | NCBI36 (hg18) | NC_000007.12 | Chr7 | 128,574,222 | 128,574,223 |