esv2829876
- 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:128,285
- 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: 633 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 633 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 171 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829876 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 79,725,880 | 79,854,164 |
| esv2829876 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 79,355,196 | 79,483,480 |
| esv2829876 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 79,193,132 | 79,321,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099172 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099172 | Remapped | Perfect | NC_000007.14:g.(?_ 79725880)_(7985416 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 79,725,880 | 79,854,164 |
| essv7099172 | Remapped | Perfect | NC_000007.13:g.(?_ 79355196)_(7948348 0_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 79,355,196 | 79,483,480 |
| essv7099172 | Submitted genomic | NC_000007.12:g.(?_ 79193132)_(7932141 6_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 79,193,132 | 79,321,416 |