esv2753275
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:231,871
- Publication(s):Pinto et al. 2007
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: 2588 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1604 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 853,959 | 1,085,829 |
| esv2753275 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 917,876 | 1,046,564 |
| esv2753275 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 113,999 | 242,687 |
| esv2753275 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 784,694 | 1,016,564 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6985863 | copy number gain | SPC_7 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6985863 | Remapped | Perfect | NC_000023.11:g.(?_ 853959)_(1085829_? )dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 853,959 | 1,085,829 |
| essv6985863 | Remapped | Pass | NW_003571064.2:g.( ?_113999)_(242687_ ?)dup | GRCh37.p13 | Second Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 113,999 | 242,687 |
| essv6985863 | Remapped | Pass | NC_000023.10:g.(?_ 917876)_(1046564_? )dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 917,876 | 1,046,564 |
| essv6985863 | Submitted genomic | NC_000023.8:g.(?_7 84694)_(1016564_?) dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 784,694 | 1,016,564 |