esv2421705
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,934
- 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: 409 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 409 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421705 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| esv2421705 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| esv2421705 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5002834 | duplication | NA19721 | SNP array | SNP genotyping analysis | 3 | 122 |
| essv5017145 | duplication | NA12830 | SNP array | SNP genotyping analysis | 3 | 137 |
| essv5018950 | duplication | NA19670 | SNP array | SNP genotyping analysis | 3 | 127 |
| essv5030917 | duplication | NA12778 | SNP array | SNP genotyping analysis | 3 | 135 |
| essv5037404 | duplication | NA20754 | SNP array | SNP genotyping analysis | 3 | 123 |
| essv5038142 | duplication | NA10845 | SNP array | SNP genotyping analysis | 3 | 120 |
| essv5052602 | duplication | NA20815 | SNP array | SNP genotyping analysis | 3 | 126 |
| essv5064104 | duplication | NA19761 | SNP array | SNP genotyping analysis | 3 | 131 |
| essv5077482 | duplication | NA19652 | SNP array | SNP genotyping analysis | 3 | 131 |
| essv5078233 | duplication | NA20911 | SNP array | SNP genotyping analysis | 3 | 121 |
| essv5078374 | duplication | NA19719 | SNP array | SNP genotyping analysis | 3 | 115 |
| essv5081121 | duplication | NA20849 | SNP array | SNP genotyping analysis | 3 | 152 |
| essv5089953 | duplication | NA21116 | SNP array | SNP genotyping analysis | 3 | 132 |
| essv5098028 | duplication | NA21106 | SNP array | SNP genotyping analysis | 3 | 124 |
| essv5100869 | duplication | NA11930 | SNP array | SNP genotyping analysis | 3 | 127 |
| essv5151037 | duplication | NA12818 | SNP array | SNP genotyping analysis | 3 | 131 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5002834 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5017145 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5018950 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5030917 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5037404 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5038142 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5052602 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5064104 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5077482 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5078233 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5078374 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5081121 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5089953 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5098028 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5100869 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5151037 | Remapped | Perfect | NC_000004.12:g.(?_ 25554958)_(2557689 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 25,554,958 | 25,576,891 |
| essv5002834 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5017145 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5018950 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5030917 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5037404 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5038142 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5052602 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5064104 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5077482 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5078233 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5078374 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5081121 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5089953 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5098028 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5100869 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5151037 | Remapped | Perfect | NC_000004.11:g.(?_ 25556580)_(2557851 3_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,556,580 | 25,578,513 |
| essv5002834 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5017145 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5018950 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5030917 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5037404 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5038142 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5052602 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5064104 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5077482 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5078233 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5078374 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5081121 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5089953 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5098028 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5100869 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 | ||
| essv5151037 | Submitted genomic | NC_000004.10:g.(?_ 25165678)_(2518761 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 25,165,678 | 25,187,611 |