esv2421843
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,408
- 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: 203 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 24 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 |
---|---|---|---|---|---|---|---|---|---|
esv2421843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
esv2421843 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
esv2421843 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv5010305 | duplication | NA19199 | SNP array | SNP genotyping analysis | 3 | 156 |
essv5010818 | duplication | NA18910 | SNP array | SNP genotyping analysis | 3 | 154 |
essv5012035 | duplication | NA18516 | SNP array | SNP genotyping analysis | 3 | 137 |
essv5013916 | duplication | NA19456 | SNP array | SNP genotyping analysis | 3 | 134 |
essv5018551 | duplication | NA18515 | SNP array | SNP genotyping analysis | 3 | 153 |
essv5029611 | duplication | NA18853 | SNP array | SNP genotyping analysis | 3 | 146 |
essv5032502 | duplication | NA18500 | SNP array | SNP genotyping analysis | 3 | 149 |
essv5035125 | duplication | NA19198 | SNP array | SNP genotyping analysis | 3 | 146 |
essv5044855 | duplication | NA18868 | SNP array | SNP genotyping analysis | 3 | 148 |
essv5046203 | duplication | NA18501 | SNP array | SNP genotyping analysis | 3 | 146 |
essv5084476 | duplication | NA18854 | SNP array | SNP genotyping analysis | 3 | 164 |
essv5089608 | duplication | NA19701 | SNP array | SNP genotyping analysis | 3 | 144 |
essv5094227 | duplication | NA21689 | SNP array | SNP genotyping analysis | 3 | 140 |
essv5111572 | duplication | NA21363 | SNP array | SNP genotyping analysis | 3 | 150 |
essv5122722 | duplication | NA18911 | SNP array | SNP genotyping analysis | 3 | 158 |
essv5129022 | duplication | NA19159 | SNP array | SNP genotyping analysis | 3 | 167 |
essv5132637 | duplication | NA18869 | SNP array | SNP genotyping analysis | 3 | 140 |
essv5139926 | duplication | NA19161 | SNP array | SNP genotyping analysis | 3 | 155 |
essv5146016 | duplication | NA19178 | SNP array | SNP genotyping analysis | 3 | 138 |
essv5151225 | duplication | NA21415 | SNP array | SNP genotyping analysis | 3 | 153 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5010305 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5010818 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5012035 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5013916 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5018551 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5029611 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5032502 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5035125 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5044855 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5046203 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5084476 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5089608 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5094227 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5111572 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5122722 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5129022 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5132637 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5139926 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5146016 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5151225 | Remapped | Perfect | NC_000014.9:g.(?_2 0052796)_(20071203 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,052,796 | 20,071,203 |
essv5010305 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5010818 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5012035 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5013916 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5018551 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5029611 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5032502 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5035125 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5044855 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5046203 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5084476 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5089608 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5094227 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5111572 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5122722 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5129022 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5132637 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5139926 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5146016 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5151225 | Remapped | Perfect | NC_000014.8:g.(?_2 0520955)_(20539362 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,520,955 | 20,539,362 |
essv5010305 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5010818 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5012035 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5013916 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5018551 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5029611 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5032502 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5035125 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5044855 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5046203 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5084476 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5089608 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5094227 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5111572 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5122722 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5129022 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5132637 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5139926 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5146016 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 | ||
essv5151225 | Submitted genomic | NC_000014.7:g.(?_1 9590795)_(19609202 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,590,795 | 19,609,202 |