esv2829878
- 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:159,093
- 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: 1231 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1231 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829878 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| esv2829878 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 |
| esv2829878 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,755,083 | 100,914,175 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099174 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099174 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| essv7099174 | Remapped | Perfect | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 |
| essv7099174 | Submitted genomic | NC_000007.12:g.(?_ 100755083)_(100914 175_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,755,083 | 100,914,175 |