esv3995335
- Organism: Homo sapiens
- Study:estd218 (Simpson et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,619
- Publication(s):Simpson 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: 808 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3995335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 105,097,815 | 105,165,433 |
| esv3995335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 104,433,516 | 104,501,134 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26051858 | copy number loss | SLI_43_3 | SNP array | Probe signal intensity | Specific language impairment 1 | 1 | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26051858 | Remapped | Perfect | NC_000005.10:g.(?_ 105097815)_(105165 433_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 105,097,815 | 105,165,433 |
| essv26051858 | Submitted genomic | NC_000005.9:g.(?_1 04433516)_(1045011 34_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 104,433,516 | 104,501,134 |