esv3992709
- 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:174,844
- 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: 1315 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1315 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3992709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,845,084 |
| esv3992709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,682,484 | 137,857,327 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26046660 | copy number loss | SLI_57_1 | SNP array | Probe signal intensity | Specific language impairment 1 | 1 | essv26046657, essv26046658, essv26046656 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26046660 | Remapped | Perfect | NC_000008.11:g.(?_ 136670241)_(136845 084_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,670,241 | 136,845,084 |
| essv26046660 | Submitted genomic | NC_000008.10:g.(?_ 137682484)_(137857 327_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,682,484 | 137,857,327 |