esv2762300
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,829
- 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: 203 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2762300 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 54,373,892 | 54,385,720 |
| esv2762300 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 54,407,804 | 54,419,632 |
| esv2762300 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 52,965,305 | 52,977,133 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7001110 | copy number loss | SW_1085 | SNP array | SNP genotyping analysis | 37 |
| essv7001112 | copy number loss | SW_1187 | SNP array | SNP genotyping analysis | 27 |
| essv7001113 | copy number loss | SW_0189 | SNP array | SNP genotyping analysis | 53 |
| essv7001114 | copy number loss | SW_0817 | SNP array | SNP genotyping analysis | 27 |
| essv7001115 | copy number loss | SW_1030 | SNP array | SNP genotyping analysis | 27 |
| essv7001116 | copy number loss | SW_1071 | SNP array | SNP genotyping analysis | 35 |
| essv7001117 | copy number loss | SW_1206 | SNP array | SNP genotyping analysis | 39 |
| essv7001118 | copy number loss | SW_1078 | SNP array | SNP genotyping analysis | 32 |
| essv7001119 | copy number loss | SW_0578 | SNP array | SNP genotyping analysis | 38 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7001110 | Remapped | Perfect | NC_000016.10:g.(?_ 54373892)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,373,892 | 54,385,720 |
| essv7001112 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438269 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,382,692 |
| essv7001113 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,385,720 |
| essv7001114 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,385,720 |
| essv7001115 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,385,720 |
| essv7001116 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,385,720 |
| essv7001117 | Remapped | Perfect | NC_000016.10:g.(?_ 54375876)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,375,876 | 54,385,720 |
| essv7001118 | Remapped | Perfect | NC_000016.10:g.(?_ 54376029)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,376,029 | 54,385,720 |
| essv7001119 | Remapped | Perfect | NC_000016.10:g.(?_ 54376325)_(5438572 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,376,325 | 54,385,720 |
| essv7001110 | Remapped | Perfect | NC_000016.9:g.(?_5 4407804)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,407,804 | 54,419,632 |
| essv7001112 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54416604 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,416,604 |
| essv7001113 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,419,632 |
| essv7001114 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,419,632 |
| essv7001115 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,419,632 |
| essv7001116 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,419,632 |
| essv7001117 | Remapped | Perfect | NC_000016.9:g.(?_5 4409788)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,788 | 54,419,632 |
| essv7001118 | Remapped | Perfect | NC_000016.9:g.(?_5 4409941)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,409,941 | 54,419,632 |
| essv7001119 | Remapped | Perfect | NC_000016.9:g.(?_5 4410237)_(54419632 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 54,410,237 | 54,419,632 |
| essv7001110 | Submitted genomic | NC_000016.8:g.(?_5 2965305)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,965,305 | 52,977,133 | ||
| essv7001112 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52974105 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,974,105 | ||
| essv7001113 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,977,133 | ||
| essv7001114 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,977,133 | ||
| essv7001115 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,977,133 | ||
| essv7001116 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,977,133 | ||
| essv7001117 | Submitted genomic | NC_000016.8:g.(?_5 2967289)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,289 | 52,977,133 | ||
| essv7001118 | Submitted genomic | NC_000016.8:g.(?_5 2967442)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,442 | 52,977,133 | ||
| essv7001119 | Submitted genomic | NC_000016.8:g.(?_5 2967738)_(52977133 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,967,738 | 52,977,133 |