esv2829951
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,154
- Description:FREQ_IN_CASES=2/43
- 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: 1625 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1639 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829951 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,103,782 | 55,267,935 |
| esv2829951 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,871,258 | 55,035,411 |
| esv2829951 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,627,834 | 54,791,987 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099308 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099309 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099308 | Remapped | Perfect | NC_000011.10:g.(?_ 55103782)_(5521493 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,103,782 | 55,214,931 |
| essv7099309 | Remapped | Perfect | NC_000011.10:g.(?_ 55103782)_(5526793 5_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,103,782 | 55,267,935 |
| essv7099308 | Remapped | Perfect | NC_000011.9:g.(?_5 4871258)_(54982407 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,871,258 | 54,982,407 |
| essv7099309 | Remapped | Perfect | NC_000011.9:g.(?_5 4871258)_(55035411 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,871,258 | 55,035,411 |
| essv7099308 | Submitted genomic | NC_000011.8:g.(?_5 4627834)_(54738983 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,627,834 | 54,738,983 | ||
| essv7099309 | Submitted genomic | NC_000011.8:g.(?_5 4627834)_(54791987 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,627,834 | 54,791,987 |