esv2421508
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,042
- Publication(s):International HapMap 3 Consortium 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: 312 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421508 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| esv2421508 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| esv2421508 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5011590 | deletion | NA18916 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5016862 | deletion | NA19324 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5021051 | deletion | NA19093 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5024078 | deletion | NA19172 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5024448 | deletion | NA19182 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5025916 | deletion | NA18933 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5036460 | deletion | NA18857 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5048707 | deletion | NA18507 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5060344 | deletion | NA19714 | SNP array | SNP genotyping analysis | 1 | 118 |
| essv5068418 | deletion | NA19137 | SNP array | SNP genotyping analysis | 1 | 166 |
| essv5069755 | deletion | NA18914 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5079496 | deletion | NA21352 | SNP array | SNP genotyping analysis | 1 | 160 |
| essv5090541 | deletion | NA19139 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5097948 | deletion | NA19456 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5107867 | deletion | NA19223 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5122475 | deletion | NA18517 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5125119 | deletion | NA19191 | SNP array | SNP genotyping analysis | 1 | 162 |
| essv5134938 | deletion | NA18499 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5136120 | deletion | NA20342 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5138679 | deletion | NA19382 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5144015 | deletion | NA20343 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5144312 | deletion | NA19428 | SNP array | SNP genotyping analysis | 1 | 145 |
| essv5149240 | deletion | NA19114 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5155460 | deletion | NA18489 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5157666 | deletion | NA18516 | SNP array | SNP genotyping analysis | 1 | 137 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5011590 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5016862 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5021051 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5024078 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5024448 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5025916 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5036460 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5048707 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5060344 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5068418 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5069755 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5079496 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5090541 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5097948 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5107867 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5122475 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5125119 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5134938 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5136120 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5138679 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5144015 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5144312 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5149240 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5155460 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5157666 | Remapped | Perfect | NC_000007.14:g.(?_ 146436775)_(146442 816_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,436,775 | 146,442,816 |
| essv5011590 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5016862 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5021051 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5024078 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5024448 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5025916 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5036460 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5048707 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5060344 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5068418 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5069755 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5079496 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5090541 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5097948 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5107867 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5122475 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5125119 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5134938 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5136120 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5138679 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5144015 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5144312 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5149240 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5155460 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5157666 | Remapped | Perfect | NC_000007.13:g.(?_ 146133867)_(146139 908_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,133,867 | 146,139,908 |
| essv5011590 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5016862 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5021051 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5024078 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5024448 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5025916 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5036460 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5048707 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5060344 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5068418 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5069755 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5079496 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5090541 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5097948 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5107867 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5122475 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5125119 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5134938 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5136120 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5138679 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5144015 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5144312 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5149240 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5155460 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 | ||
| essv5157666 | Submitted genomic | NC_000007.12:g.(?_ 145764800)_(145770 841_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 145,764,800 | 145,770,841 |