esv2830049
- 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:62,133
- 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: 495 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 467 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830049 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 30,210,968 | 30,273,100 |
| esv2830049 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 29,445,644 | 29,507,776 |
| esv2830049 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 28,059,305 | 28,121,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099484 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099484 | Remapped | Perfect | NC_000020.11:g.(?_ 30210968)_(3027310 0_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 30,210,968 | 30,273,100 |
| essv7099484 | Remapped | Perfect | NC_000020.10:g.(?_ 29445644)_(2950777 6_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 29,445,644 | 29,507,776 |
| essv7099484 | Submitted genomic | NC_000020.9:g.(?_2 8059305)_(28121437 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 28,059,305 | 28,121,437 |