esv3995333
- 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:35,822
- 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: 854 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 854 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3995333 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 34,466,016 | 34,501,837 |
| esv3995333 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 34,691,083 | 34,726,904 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv26051856 | copy number gain | SLI_43_3 | SNP array | Probe signal intensity | Specific language impairment 1 | 3 | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26051856 | Remapped | Perfect | NC_000002.12:g.(?_ 34466016)_(3450183 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 34,466,016 | 34,501,837 |
| essv26051856 | Submitted genomic | NC_000002.11:g.(?_ 34691083)_(3472690 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 34,691,083 | 34,726,904 |