esv2830087
- 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:51,093
- 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: 543 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 538 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830087 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 147,318,960 | 147,370,052 |
| esv2830087 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 146,400,478 | 146,451,570 |
| esv2830087 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 2,843,351 | 2,894,443 |
| esv2830087 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 146,208,170 | 146,259,262 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099528 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099528 | Remapped | Perfect | NC_000023.11:g.(?_ 147318960)_(147370 052_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 147,318,960 | 147,370,052 |
| essv7099528 | Remapped | Perfect | NW_004070890.2:g.( ?_2843351)_(289444 3_?)dup | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 2,843,351 | 2,894,443 |
| essv7099528 | Remapped | Perfect | NC_000023.10:g.(?_ 146400478)_(146451 570_?)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 146,400,478 | 146,451,570 |
| essv7099528 | Submitted genomic | NC_000023.9:g.(?_1 46208170)_(1462592 62_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 146,208,170 | 146,259,262 |