esv2752463
- 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:361,001
- 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: 837 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 824 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2752463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 115,294,500 | 115,655,500 |
| esv2752463 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 117,054,010 | 117,415,010 |
| esv2752463 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775432.1 | Chr10|NW_0 04775432.1 | 267,964 | 628,964 |
| esv2752463 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 117,044,000 | 117,405,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6988708 | copy number gain | BEC_621 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6988708 | Remapped | Perfect | NC_000010.11:g.(?_ 115294500)_(115655 500_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 115,294,500 | 115,655,500 |
| essv6988708 | Remapped | Perfect | NW_004775432.1:g.( ?_267964)_(628964_ ?)dup | GRCh37.p13 | First Pass | NW_004775432.1 | Chr10|NW_0 04775432.1 | 267,964 | 628,964 |
| essv6988708 | Remapped | Perfect | NC_000010.10:g.(?_ 117054010)_(117415 010_?)dup | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 117,054,010 | 117,415,010 |
| essv6988708 | Submitted genomic | NC_000010.8:g.(?_1 17044000)_(1174050 00_?)dup | NCBI35 (hg17) | NC_000010.8 | Chr10 | 117,044,000 | 117,405,000 |