esv2285591
- 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:8,833
- 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: 495 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2285591 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 172,503,728 | 172,503,882 | 172,512,407 | 172,512,560 |
| esv2285591 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 173,424,879 | 173,425,033 | 173,433,558 | 173,433,711 |
| esv2285591 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 173,661,454 | 173,661,608 | 173,670,133 | 173,670,286 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4998470 | Remapped | Perfect | NC_000004.12:g.(17 2503728_172503882) _(172512407_172512 560)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 172,503,728 | 172,503,882 | 172,512,407 | 172,512,560 |
| essv4998470 | Remapped | Perfect | NC_000004.11:g.(17 3424879_173425033) _(173433558_173433 711)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 173,424,879 | 173,425,033 | 173,433,558 | 173,433,711 |
| essv4998470 | Submitted genomic | NC_000004.10:g.(17 3661454_173661608) _(173670133_173670 286)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 173,661,454 | 173,661,608 | 173,670,133 | 173,670,286 |