esv2421791
- 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:9,282
- 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: 174 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421791 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| esv2421791 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| esv2421791 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5017777 | deletion | NA20347 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5020198 | deletion | NA21390 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5020476 | deletion | NA18911 | SNP array | SNP genotyping analysis | 1 | 158 |
| essv5045398 | deletion | NA18853 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5046521 | deletion | NA18518 | SNP array | SNP genotyping analysis | 1 | 153 |
| essv5056666 | deletion | NA20345 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5058882 | deletion | NA18520 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5064039 | deletion | NA19144 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5065188 | deletion | NA19206 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5070108 | deletion | NA18987 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5081617 | deletion | NA21741 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5082501 | deletion | NA18909 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5086956 | deletion | NA18875 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5102734 | deletion | NA20346 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5110176 | deletion | NA21583 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5113139 | deletion | NA20344 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5134392 | deletion | NA18874 | SNP array | SNP genotyping analysis | 1 | 142 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5017777 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5020198 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5020476 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5045398 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5046521 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5056666 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5058882 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5064039 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5065188 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5070108 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5081617 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5082501 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5086956 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5102734 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5110176 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5113139 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5134392 | Remapped | Perfect | NC_000004.12:g.(?_ 53204794)_(5321407 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 53,204,794 | 53,214,075 |
| essv5017777 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5020198 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5020476 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5045398 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5046521 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5056666 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5058882 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5064039 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5065188 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5070108 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5081617 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5082501 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5086956 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5102734 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5110176 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5113139 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5134392 | Remapped | Perfect | NC_000004.11:g.(?_ 54070961)_(5408024 2_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 54,070,961 | 54,080,242 |
| essv5017777 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5020198 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5020476 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5045398 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5046521 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5056666 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5058882 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5064039 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5065188 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5070108 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5081617 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5082501 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5086956 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5102734 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5110176 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5113139 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 | ||
| essv5134392 | Submitted genomic | NC_000004.10:g.(?_ 53765718)_(5377499 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 53,765,718 | 53,774,999 |