esv2757645
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,622
- Publication(s):Redon 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: 315 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 79,016,219 | 79,034,840 |
| esv2757645 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 79,050,116 | 79,068,737 |
| esv2757645 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 77,607,617 | 77,626,238 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv14043 | copy number loss | NA18862 | SNP array | SNP genotyping analysis | 114 |
| essv13302 | copy number loss | NA19202 | SNP array | SNP genotyping analysis | 129 |
| essv11307 | copy number loss | NA18863 | SNP array | SNP genotyping analysis | 114 |
| essv7967 | copy number loss | NA19203 | SNP array | SNP genotyping analysis | 83 |
| essv8558 | copy number loss | NA18503 | SNP array | SNP genotyping analysis | 80 |
| essv14812 | copy number loss | NA18870 | SNP array | SNP genotyping analysis | 91 |
| essv8680 | copy number loss | NA18912 | SNP array | SNP genotyping analysis | 125 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv14043 | Remapped | Perfect | NC_000016.10:g.(79 016219_79027465)_( 79029259_79029259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,016,219 | 79,027,465 | 79,029,259 | 79,029,259 |
| essv13302 | Remapped | Perfect | NC_000016.10:g.(79 023001_79027465)_( 79029259_79029259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,023,001 | 79,027,465 | 79,029,259 | 79,029,259 |
| essv11307 | Remapped | Perfect | NC_000016.10:g.(79 025229_79027465)_( 79029259_79029259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,025,229 | 79,027,465 | 79,029,259 | 79,029,259 |
| essv7967 | Remapped | Perfect | NC_000016.10:g.(79 025229_79027465)_( 79029259_79029259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,025,229 | 79,027,465 | 79,029,259 | 79,029,259 |
| essv8558 | Remapped | Perfect | NC_000016.10:g.(79 025229_79027465)_( 79029259_79029259) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,025,229 | 79,027,465 | 79,029,259 | 79,029,259 |
| essv14812 | Remapped | Perfect | NC_000016.10:g.(79 027465_79027465)_( 79029259_79034840) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,027,465 | 79,027,465 | 79,029,259 | 79,034,840 |
| essv8680 | Remapped | Perfect | NC_000016.10:g.(79 027465_79027465)_( 79029259_79030297) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 79,027,465 | 79,027,465 | 79,029,259 | 79,030,297 |
| essv14043 | Remapped | Perfect | NC_000016.9:g.(790 50116_79061362)_(7 9063156_79063156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,050,116 | 79,061,362 | 79,063,156 | 79,063,156 |
| essv13302 | Remapped | Perfect | NC_000016.9:g.(790 56898_79061362)_(7 9063156_79063156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,056,898 | 79,061,362 | 79,063,156 | 79,063,156 |
| essv11307 | Remapped | Perfect | NC_000016.9:g.(790 59126_79061362)_(7 9063156_79063156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,059,126 | 79,061,362 | 79,063,156 | 79,063,156 |
| essv7967 | Remapped | Perfect | NC_000016.9:g.(790 59126_79061362)_(7 9063156_79063156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,059,126 | 79,061,362 | 79,063,156 | 79,063,156 |
| essv8558 | Remapped | Perfect | NC_000016.9:g.(790 59126_79061362)_(7 9063156_79063156)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,059,126 | 79,061,362 | 79,063,156 | 79,063,156 |
| essv14812 | Remapped | Perfect | NC_000016.9:g.(790 61362_79061362)_(7 9063156_79068737)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,061,362 | 79,061,362 | 79,063,156 | 79,068,737 |
| essv8680 | Remapped | Perfect | NC_000016.9:g.(790 61362_79061362)_(7 9063156_79064194)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 79,061,362 | 79,061,362 | 79,063,156 | 79,064,194 |
| essv14043 | Submitted genomic | NC_000016.8:g.(776 07617_77618863)_(7 7620657_77620657)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,607,617 | 77,618,863 | 77,620,657 | 77,620,657 | ||
| essv13302 | Submitted genomic | NC_000016.8:g.(776 14399_77618863)_(7 7620657_77620657)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,614,399 | 77,618,863 | 77,620,657 | 77,620,657 | ||
| essv11307 | Submitted genomic | NC_000016.8:g.(776 16627_77618863)_(7 7620657_77620657)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,616,627 | 77,618,863 | 77,620,657 | 77,620,657 | ||
| essv7967 | Submitted genomic | NC_000016.8:g.(776 16627_77618863)_(7 7620657_77620657)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,616,627 | 77,618,863 | 77,620,657 | 77,620,657 | ||
| essv8558 | Submitted genomic | NC_000016.8:g.(776 16627_77618863)_(7 7620657_77620657)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,616,627 | 77,618,863 | 77,620,657 | 77,620,657 | ||
| essv14812 | Submitted genomic | NC_000016.8:g.(776 18863_77618863)_(7 7620657_77626238)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,618,863 | 77,618,863 | 77,620,657 | 77,626,238 | ||
| essv8680 | Submitted genomic | NC_000016.8:g.(776 18863_77618863)_(7 7620657_77621695)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 77,618,863 | 77,618,863 | 77,620,657 | 77,621,695 |