esv2760672
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,722
- Publication(s):Vogler 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: 512 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2760672 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 42,624,858 | 42,650,579 |
| esv2760672 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 41,253,498 | 41,279,219 |
| esv2760672 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 40,686,912 | 40,712,633 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7026297 | copy number loss | RW_0021 | SNP array | SNP genotyping analysis | 61 |
| essv7026298 | copy number loss | RW_0003 | SNP array | SNP genotyping analysis | 58 |
| essv7026302 | copy number loss | RW_0058 | SNP array | SNP genotyping analysis | 45 |
| essv7026303 | copy number loss | RW_0060 | SNP array | SNP genotyping analysis | 51 |
| essv7026304 | copy number loss | RW_0067 | SNP array | SNP genotyping analysis | 25 |
| essv7026305 | copy number loss | RW_0187 | SNP array | SNP genotyping analysis | 60 |
| essv7026306 | copy number loss | RW_0212 | SNP array | SNP genotyping analysis | 57 |
| essv7026307 | copy number loss | RW_0269 | SNP array | SNP genotyping analysis | 44 |
| essv7026308 | copy number loss | RW_0329 | SNP array | SNP genotyping analysis | 40 |
| essv7026309 | copy number loss | RW_0576 | SNP array | SNP genotyping analysis | 59 |
| essv7026310 | copy number loss | RW_0617 | SNP array | SNP genotyping analysis | 42 |
| essv7026311 | copy number loss | RW_0633 | SNP array | SNP genotyping analysis | 38 |
| essv7026313 | copy number loss | RW_0518 | SNP array | SNP genotyping analysis | 56 |
| essv7026314 | copy number loss | RW_0533 | SNP array | SNP genotyping analysis | 41 |
| essv7026315 | copy number loss | RW_0660 | SNP array | SNP genotyping analysis | 33 |
| essv7026316 | copy number loss | RW_0250 | SNP array | SNP genotyping analysis | 65 |
| essv7026317 | copy number loss | RW_0573 | SNP array | SNP genotyping analysis | 43 |
| essv7026318 | copy number loss | RW_0581 | SNP array | SNP genotyping analysis | 38 |
| essv7026319 | copy number loss | RW_0645 | SNP array | SNP genotyping analysis | 36 |
| essv7026320 | copy number loss | RW_0142 | SNP array | SNP genotyping analysis | 36 |
| essv7026321 | copy number loss | RW_0171 | SNP array | SNP genotyping analysis | 65 |
| essv7026322 | copy number loss | RW_0189 | SNP array | SNP genotyping analysis | 72 |
| essv7026324 | copy number loss | RW_0578 | SNP array | SNP genotyping analysis | 51 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7026297 | Remapped | Perfect | NC_000020.11:g.(?_ 42624858)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,624,858 | 42,648,457 |
| essv7026298 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026302 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026303 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026304 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026305 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026306 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026307 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026308 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026309 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026310 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026311 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,648,457 |
| essv7026313 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265016 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,169 |
| essv7026314 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265016 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,169 |
| essv7026315 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265016 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,169 |
| essv7026316 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265057 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,579 |
| essv7026317 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265057 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,579 |
| essv7026318 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265057 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,579 |
| essv7026319 | Remapped | Perfect | NC_000020.11:g.(?_ 42626961)_(4265057 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,626,961 | 42,650,579 |
| essv7026320 | Remapped | Perfect | NC_000020.11:g.(?_ 42627137)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,627,137 | 42,648,457 |
| essv7026321 | Remapped | Perfect | NC_000020.11:g.(?_ 42627137)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,627,137 | 42,648,457 |
| essv7026322 | Remapped | Perfect | NC_000020.11:g.(?_ 42627137)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,627,137 | 42,648,457 |
| essv7026324 | Remapped | Perfect | NC_000020.11:g.(?_ 42627137)_(4264845 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 42,627,137 | 42,648,457 |
| essv7026297 | Remapped | Perfect | NC_000020.10:g.(?_ 41253498)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,253,498 | 41,277,097 |
| essv7026298 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026302 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026303 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026304 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026305 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026306 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026307 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026308 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026309 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026310 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026311 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,277,097 |
| essv7026313 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127880 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,278,809 |
| essv7026314 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127880 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,278,809 |
| essv7026315 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127880 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,278,809 |
| essv7026316 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127921 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,279,219 |
| essv7026317 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127921 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,279,219 |
| essv7026318 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127921 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,279,219 |
| essv7026319 | Remapped | Perfect | NC_000020.10:g.(?_ 41255601)_(4127921 9_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,601 | 41,279,219 |
| essv7026320 | Remapped | Perfect | NC_000020.10:g.(?_ 41255777)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,777 | 41,277,097 |
| essv7026321 | Remapped | Perfect | NC_000020.10:g.(?_ 41255777)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,777 | 41,277,097 |
| essv7026322 | Remapped | Perfect | NC_000020.10:g.(?_ 41255777)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,777 | 41,277,097 |
| essv7026324 | Remapped | Perfect | NC_000020.10:g.(?_ 41255777)_(4127709 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,255,777 | 41,277,097 |
| essv7026297 | Submitted genomic | NC_000020.9:g.(?_4 0686912)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,686,912 | 40,710,511 | ||
| essv7026298 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026302 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026303 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026304 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026305 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026306 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026307 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026308 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026309 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026310 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026311 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,710,511 | ||
| essv7026313 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712223 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,223 | ||
| essv7026314 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712223 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,223 | ||
| essv7026315 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712223 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,223 | ||
| essv7026316 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712633 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,633 | ||
| essv7026317 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712633 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,633 | ||
| essv7026318 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712633 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,633 | ||
| essv7026319 | Submitted genomic | NC_000020.9:g.(?_4 0689015)_(40712633 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,015 | 40,712,633 | ||
| essv7026320 | Submitted genomic | NC_000020.9:g.(?_4 0689191)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,191 | 40,710,511 | ||
| essv7026321 | Submitted genomic | NC_000020.9:g.(?_4 0689191)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,191 | 40,710,511 | ||
| essv7026322 | Submitted genomic | NC_000020.9:g.(?_4 0689191)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,191 | 40,710,511 | ||
| essv7026324 | Submitted genomic | NC_000020.9:g.(?_4 0689191)_(40710511 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 40,689,191 | 40,710,511 |