esv2830169
- 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:63,752
- 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: 534 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 534 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830169 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 9,277,058 | 9,340,809 |
| esv2830169 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 9,337,117 | 9,400,868 |
| esv2830169 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 9,259,704 | 9,323,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099891 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099891 | Remapped | Perfect | NC_000001.11:g.(?_ 9277058)_(9340809_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 9,277,058 | 9,340,809 |
| essv7099891 | Remapped | Perfect | NC_000001.10:g.(?_ 9337117)_(9400868_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 9,337,117 | 9,400,868 |
| essv7099891 | Submitted genomic | NC_000001.9:g.(?_9 259704)_(9323455_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 9,259,704 | 9,323,455 |