esv2829926
- 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:26,025
- 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: 500 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 500 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829926 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,689,126 | 54,715,150 |
| esv2829926 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,448,886 | 56,474,910 |
| esv2829926 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 56,118,892 | 56,144,916 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099273 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099273 | Remapped | Perfect | NC_000010.11:g.(?_ 54689126)_(5471515 0_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,689,126 | 54,715,150 |
| essv7099273 | Remapped | Perfect | NC_000010.10:g.(?_ 56448886)_(5647491 0_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,448,886 | 56,474,910 |
| essv7099273 | Submitted genomic | NC_000010.9:g.(?_5 6118892)_(56144916 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,118,892 | 56,144,916 |