esv2421534
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,521
- 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: 362 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421534 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| esv2421534 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| esv2421534 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5004033 | duplication | NA12760 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5015217 | duplication | NA10865 | SNP array | SNP genotyping analysis | 3 | 130 |
| essv5027635 | duplication | NA20128 | SNP array | SNP genotyping analysis | 3 | 135 |
| essv5031560 | duplication | NA12752 | SNP array | SNP genotyping analysis | 3 | 144 |
| essv5059998 | duplication | NA20795 | SNP array | SNP genotyping analysis | 3 | 135 |
| essv5068836 | duplication | NA06997 | SNP array | SNP genotyping analysis | 3 | 129 |
| essv5070497 | duplication | NA10840 | SNP array | SNP genotyping analysis | 3 | 126 |
| essv5088865 | duplication | NA06986 | SNP array | SNP genotyping analysis | 3 | 137 |
| essv5098644 | duplication | NA12287 | SNP array | SNP genotyping analysis | 3 | 125 |
| essv5107933 | duplication | NA18603 | SNP array | SNP genotyping analysis | 3 | 131 |
| essv5113629 | duplication | NA20891 | SNP array | SNP genotyping analysis | 3 | 117 |
| essv5116553 | duplication | NA11891 | SNP array | SNP genotyping analysis | 3 | 127 |
| essv5129495 | duplication | NA20887 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5138787 | duplication | NA20802 | SNP array | SNP genotyping analysis | 3 | 116 |
| essv5153433 | duplication | NA20127 | SNP array | SNP genotyping analysis | 3 | 132 |
| essv5155658 | duplication | NA20787 | SNP array | SNP genotyping analysis | 3 | 119 |
| essv5157342 | duplication | NA20907 | SNP array | SNP genotyping analysis | 3 | 129 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5004033 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5015217 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5027635 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5031560 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5059998 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5068836 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5070497 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5088865 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5098644 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5107933 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5113629 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5116553 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5129495 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5138787 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5153433 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5155658 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5157342 | Remapped | Perfect | NC_000011.10:g.(?_ 107782355)_(107800 875_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 107,782,355 | 107,800,875 |
| essv5004033 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5015217 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5027635 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5031560 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5059998 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5068836 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5070497 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5088865 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5098644 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5107933 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5113629 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5116553 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5129495 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5138787 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5153433 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5155658 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5157342 | Remapped | Perfect | NC_000011.9:g.(?_1 07653081)_(1076716 01_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 107,653,081 | 107,671,601 |
| essv5004033 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5015217 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5027635 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5031560 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5059998 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5068836 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5070497 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5088865 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5098644 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5107933 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5113629 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5116553 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5129495 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5138787 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5153433 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5155658 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 | ||
| essv5157342 | Submitted genomic | NC_000011.8:g.(?_1 07158291)_(1071768 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 107,158,291 | 107,176,811 |