esv2421650
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,151
- 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: 187 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421650 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| esv2421650 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| esv2421650 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5026093 | deletion | NA19901 | SNP array | SNP genotyping analysis | 1 | 145 |
| essv5034900 | deletion | NA21583 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5041728 | deletion | NA21611 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5042078 | deletion | NA20796 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5042099 | deletion | NA19159 | SNP array | SNP genotyping analysis | 1 | 167 |
| essv5048885 | deletion | NA12760 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5049610 | deletion | NA21336 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5054390 | deletion | NA21527 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5059779 | deletion | NA18872 | SNP array | SNP genotyping analysis | 1 | 155 |
| essv5074215 | deletion | NA18486 | SNP array | SNP genotyping analysis | 1 | 158 |
| essv5074985 | deletion | NA18489 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5078981 | deletion | NA18871 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5085034 | deletion | NA19160 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5086686 | deletion | NA19670 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5090184 | deletion | NA18875 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5100358 | deletion | NA18873 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5102627 | deletion | NA18485 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5104547 | deletion | NA19445 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5105548 | deletion | NA19161 | SNP array | SNP genotyping analysis | 0 | 155 |
| essv5106688 | deletion | NA19174 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5107389 | deletion | NA19223 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5140857 | deletion | NA21722 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5142966 | deletion | NA18484 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5144998 | deletion | NA21826 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5146294 | deletion | NA19152 | SNP array | SNP genotyping analysis | 1 | 145 |
| essv5157535 | deletion | NA19117 | SNP array | SNP genotyping analysis | 1 | 145 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5026093 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5034900 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5041728 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5042078 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5042099 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5048885 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5049610 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5054390 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5059779 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5074215 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5074985 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5078981 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5085034 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5086686 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5090184 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5100358 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5102627 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5104547 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5105548 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5106688 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5107389 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5140857 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5142966 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5144998 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5146294 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5157535 | Remapped | Perfect | NC_000004.12:g.(?_ 20555088)_(2056423 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 20,555,088 | 20,564,238 |
| essv5026093 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5034900 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5041728 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5042078 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5042099 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5048885 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5049610 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5054390 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5059779 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5074215 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5074985 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5078981 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5085034 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5086686 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5090184 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5100358 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5102627 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5104547 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5105548 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5106688 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5107389 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5140857 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5142966 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5144998 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5146294 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5157535 | Remapped | Perfect | NC_000004.11:g.(?_ 20556711)_(2056586 1_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 20,556,711 | 20,565,861 |
| essv5026093 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5034900 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5041728 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5042078 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5042099 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5048885 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5049610 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5054390 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5059779 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5074215 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5074985 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5078981 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5085034 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5086686 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5090184 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5100358 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5102627 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5104547 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5105548 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5106688 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5107389 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5140857 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5142966 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5144998 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5146294 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 | ||
| essv5157535 | Submitted genomic | NC_000004.10:g.(?_ 20165809)_(2017495 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 20,165,809 | 20,174,959 |