esv2829945
- 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:57,448
- 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: 428 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,096,205 | 25,153,652 |
| esv2829945 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 25,117,751 | 25,175,198 |
| esv2829945 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 25,074,327 | 25,131,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099300 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099300 | Remapped | Perfect | NC_000011.10:g.(?_ 25096205)_(2515365 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,096,205 | 25,153,652 |
| essv7099300 | Remapped | Perfect | NC_000011.9:g.(?_2 5117751)_(25175198 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,117,751 | 25,175,198 |
| essv7099300 | Submitted genomic | NC_000011.8:g.(?_2 5074327)_(25131774 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,074,327 | 25,131,774 |