esv3693392
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,268
- Publication(s):Palta et al. 2015
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: 266 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 86 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3693392 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 120,679,036 | 120,757,303 |
| esv3693392 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 120,549,745 | 120,628,012 |
| esv3693392 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 120,054,955 | 120,133,222 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508409 | copy number loss | C010109 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508407 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508409 | Remapped | Perfect | NC_000011.10:g.(?_ 120679036)_(120757 303_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 120,679,036 | 120,757,303 |
| essv16508409 | Remapped | Perfect | NC_000011.9:g.(?_1 20549745)_(1206280 12_?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 120,549,745 | 120,628,012 |
| essv16508409 | Submitted genomic | NC_000011.8:g.(?_1 20054955)_(1201332 22_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 120,054,955 | 120,133,222 |