esv3994812
- 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:Yes
- Clinical Assertions: No
- Region Size:197,475
- 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: 709 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 709 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
esv3994812 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 35,809,810 | 36,007,284 |
esv3994812 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 35,827,927 | 36,025,401 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
essv26051387 | copy number gain | SLI_144_2 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv26051387 | Remapped | Perfect | NC_000023.11:g.(?_ 35809810)_(3600728 4_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 35,809,810 | 36,007,284 |
essv26051387 | Submitted genomic | NC_000023.10:g.(?_ 35827927)_(3602540 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 35,827,927 | 36,025,401 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv26051387 | 2 | SLI_144_2 | qPCR | Probe signal intensity | Pass |