esv2829846
- 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:94,325
- 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: 410 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829846 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 112,005,748 | 112,100,072 |
| esv2829846 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 111,341,445 | 111,435,769 |
| esv2829846 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 111,369,344 | 111,463,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099095 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099095 | Remapped | Perfect | NC_000005.10:g.(?_ 112005748)_(112100 072_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 112,005,748 | 112,100,072 |
| essv7099095 | Remapped | Perfect | NC_000005.9:g.(?_1 11341445)_(1114357 69_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 111,341,445 | 111,435,769 |
| essv7099095 | Submitted genomic | NC_000005.8:g.(?_1 11369344)_(1114636 68_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 111,369,344 | 111,463,668 |