esv2830076
- 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:108,881
- 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: 563 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830076 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 45,336,405 | 45,445,285 |
| esv2830076 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 45,195,650 | 45,304,530 |
| esv2830076 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 45,080,594 | 45,189,474 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099515 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099515 | Remapped | Perfect | NC_000023.11:g.(?_ 45336405)_(4544528 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 45,336,405 | 45,445,285 |
| essv7099515 | Remapped | Perfect | NC_000023.10:g.(?_ 45195650)_(4530453 0_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 45,195,650 | 45,304,530 |
| essv7099515 | Submitted genomic | NC_000023.9:g.(?_4 5080594)_(45189474 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 45,080,594 | 45,189,474 |