esv2829916
- 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:36,128
- 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: 387 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 103,001,834 | 103,037,961 |
| esv2829916 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 105,764,116 | 105,800,243 |
| esv2829916 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 104,803,937 | 104,840,064 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099256 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099256 | Remapped | Perfect | NC_000009.12:g.(?_ 103001834)_(103037 961_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 103,001,834 | 103,037,961 |
| essv7099256 | Remapped | Perfect | NC_000009.11:g.(?_ 105764116)_(105800 243_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 105,764,116 | 105,800,243 |
| essv7099256 | Submitted genomic | NC_000009.10:g.(?_ 104803937)_(104840 064_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 104,803,937 | 104,840,064 |