esv3993285
- 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:330,269
- 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: 1627 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1628 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3993285 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,589,117 | 6,919,385 |
| esv3993285 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,507,158 | 6,837,426 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26050014 | copy number gain | SLI_102_4 | SNP array | Probe signal intensity | Specific language impairment 1 | 3 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26050014 | Remapped | Perfect | NC_000023.11:g.(?_ 6589117)_(6919385_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,589,117 | 6,919,385 |
| essv26050014 | Submitted genomic | NC_000023.10:g.(?_ 6507158)_(6837426_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,507,158 | 6,837,426 |