esv2829924
- 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:132,720
- 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: 658 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,146,352 | 54,279,071 |
| esv2829924 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 55,906,112 | 56,038,831 |
| esv2829924 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 55,576,118 | 55,708,837 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099271 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
| essv7099272 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099271 | Remapped | Perfect | NC_000010.11:g.(?_ 54146352)_(5427907 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,146,352 | 54,279,071 |
| essv7099272 | Remapped | Perfect | NC_000010.11:g.(?_ 54162946)_(5427212 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,162,946 | 54,272,128 |
| essv7099271 | Remapped | Perfect | NC_000010.10:g.(?_ 55906112)_(5603883 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 55,906,112 | 56,038,831 |
| essv7099272 | Remapped | Perfect | NC_000010.10:g.(?_ 55922706)_(5603188 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 55,922,706 | 56,031,888 |
| essv7099271 | Submitted genomic | NC_000010.9:g.(?_5 5576118)_(55708837 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 55,576,118 | 55,708,837 | ||
| essv7099272 | Submitted genomic | NC_000010.9:g.(?_5 5592712)_(55701894 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 55,592,712 | 55,701,894 |