esv3994908
- 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:185,232
- 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: 616 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 616 SVs from 82 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 |
---|---|---|---|---|---|---|---|---|---|
esv3994908 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 32,178,203 | 32,363,434 |
esv3994908 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 32,217,815 | 32,403,046 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
essv26051474 | copy number gain | SLI_15_1 | SNP array | Probe signal intensity | Specific language impairment 1 | 3 | 19 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv26051474 | Remapped | Perfect | NC_000007.14:g.(?_ 32178203)_(3236343 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 32,178,203 | 32,363,434 |
essv26051474 | Submitted genomic | NC_000007.13:g.(?_ 32217815)_(3240304 6_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 32,217,815 | 32,403,046 |