esv2829995
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,495
- Description:FREQ_IN_CASES=1/43
- Publication(s):Nagirnaja et al. 2014
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: 273 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 273 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 44,095,808 | 44,137,302 |
| esv2829995 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 44,565,011 | 44,606,505 |
| esv2829995 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 43,634,761 | 43,676,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099391 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099391 | Remapped | Perfect | NC_000014.9:g.(?_4 4095808)_(44137302 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,095,808 | 44,137,302 |
| essv7099391 | Remapped | Perfect | NC_000014.8:g.(?_4 4565011)_(44606505 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 44,565,011 | 44,606,505 |
| essv7099391 | Submitted genomic | NC_000014.7:g.(?_4 3634761)_(43676255 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 43,634,761 | 43,676,255 |