esv2422463
- Organism: Homo sapiens
- Study:estd196 (Simon-Sanchez et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:212,171
- Publication(s):Simon-Sanchez et al. 2006
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: 832 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 832 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 29,710,985 | 29,923,133 |
| esv2422463 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,995,115 | 2,207,285 |
| esv2422463 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,882,631 | 2,094,801 |
| esv2422463 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 30,003,189 | 30,215,336 |
| esv2422463 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 27,790,481 | 28,002,628 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5161377 | duplication | ND05461 | SNP array | SNP genotyping analysis | essv5161470, essv5161488, essv5161475 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5161377 | Remapped | Good | NT_187660.1:g.(?_1 995115)_(2207285_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,995,115 | 2,207,285 |
| essv5161377 | Remapped | Good | NW_011332701.1:g.( ?_1882631)_(209480 1_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,882,631 | 2,094,801 |
| essv5161377 | Remapped | Perfect | NC_000015.10:g.(?_ 29710985)_(2992313 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 29,710,985 | 29,923,133 |
| essv5161377 | Remapped | Perfect | NC_000015.9:g.(?_3 0003189)_(30215336 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,003,189 | 30,215,336 |
| essv5161377 | Submitted genomic | NC_000015.8:g.(?_2 7790481)_(28002628 _?)dup | NCBI35 (hg17) | NC_000015.8 | Chr15 | 27,790,481 | 28,002,628 |