esv2763428
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,069
- Publication(s):Vogler et al. 2010
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: 737 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 737 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,834,486 | 189,844,248 |
| esv2763428 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 483,215 | 492,977 |
| esv2763428 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 169,380 | 179,544 |
| esv2763428 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 168,012 | 179,080 |
| esv2763428 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,755,641 | 190,765,403 |
| esv2763428 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 190,992,635 | 191,002,397 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7030400 | copy number loss | SW_0841 | SNP array | SNP genotyping analysis | 37 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7030400 | Remapped | Perfect | NT_187679.1:g.(?_4 83215)_(492977_?)d el | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 483,215 | 492,977 |
| essv7030400 | Remapped | Pass | NT_187650.1:g.(?_1 68012)_(179080_?)d el | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 168,012 | 179,080 |
| essv7030400 | Remapped | Good | NT_187543.1:g.(?_1 69380)_(179544_?)d el | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 169,380 | 179,544 |
| essv7030400 | Remapped | Perfect | NC_000004.12:g.(?_ 189834486)_(189844 248_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,834,486 | 189,844,248 |
| essv7030400 | Remapped | Perfect | NC_000004.11:g.(?_ 190755641)_(190765 403_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,755,641 | 190,765,403 |
| essv7030400 | Submitted genomic | NC_000004.10:g.(?_ 190992635)_(191002 397_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,992,635 | 191,002,397 |