esv2763851
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,997
- 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: 373 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763851 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 156,035,480 | 156,056,476 |
| esv2763851 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 156,956,632 | 156,977,628 |
| esv2763851 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 157,176,082 | 157,197,078 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7030214 | copy number loss | SW_0148 | SNP array | SNP genotyping analysis | 43 |
| essv7030215 | copy number loss | SW_1043 | SNP array | SNP genotyping analysis | 55 |
| essv7030216 | copy number loss | SW_0717 | SNP array | SNP genotyping analysis | 24 |
| essv7030217 | copy number loss | SW_0760 | SNP array | SNP genotyping analysis | 44 |
| essv7030218 | copy number loss | SW_0790 | SNP array | SNP genotyping analysis | 48 |
| essv7030219 | copy number loss | SW_0814 | SNP array | SNP genotyping analysis | 36 |
| essv7030220 | copy number loss | SW_0872 | SNP array | SNP genotyping analysis | 44 |
| essv7030221 | copy number loss | SW_1063 | SNP array | SNP genotyping analysis | 50 |
| essv7030222 | copy number loss | SW_1097 | SNP array | SNP genotyping analysis | 47 |
| essv7030223 | copy number loss | SW_1166 | SNP array | SNP genotyping analysis | 37 |
| essv7030225 | copy number loss | SW_1216 | SNP array | SNP genotyping analysis | 24 |
| essv7030226 | copy number loss | SW_1262 | SNP array | SNP genotyping analysis | 23 |
| essv7030227 | copy number loss | SW_1354 | SNP array | SNP genotyping analysis | 31 |
| essv7030228 | copy number loss | SW_1371 | SNP array | SNP genotyping analysis | 39 |
| essv7030229 | copy number loss | SW_1044 | SNP array | SNP genotyping analysis | 32 |
| essv7030230 | copy number loss | SW_1048 | SNP array | SNP genotyping analysis | 22 |
| essv7030231 | copy number loss | SW_1147 | SNP array | SNP genotyping analysis | 41 |
| essv7030232 | copy number loss | SW_1296 | SNP array | SNP genotyping analysis | 21 |
| essv7030233 | copy number loss | SW_1340 | SNP array | SNP genotyping analysis | 41 |
| essv7030234 | copy number loss | SW_1353 | SNP array | SNP genotyping analysis | 15 |
| essv7030236 | copy number loss | SW_1423 | SNP array | SNP genotyping analysis | 33 |
| essv7030237 | copy number loss | SW_1195 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7030214 | Remapped | Perfect | NC_000004.12:g.(?_ 156035480)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,035,480 | 156,052,053 |
| essv7030215 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156047 875_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,047,875 |
| essv7030216 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030217 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030218 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030219 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030220 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030221 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030222 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030223 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030225 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030226 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030227 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030228 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156052 053_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,052,053 |
| essv7030229 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030230 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030231 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030232 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030233 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030234 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030236 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156053 545_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,053,545 |
| essv7030237 | Remapped | Perfect | NC_000004.12:g.(?_ 156046823)_(156056 476_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 156,046,823 | 156,056,476 |
| essv7030214 | Remapped | Perfect | NC_000004.11:g.(?_ 156956632)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,956,632 | 156,973,205 |
| essv7030215 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156969 027_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,969,027 |
| essv7030216 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030217 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030218 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030219 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030220 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030221 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030222 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030223 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030225 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030226 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030227 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030228 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156973 205_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,973,205 |
| essv7030229 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030230 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030231 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030232 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030233 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030234 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030236 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156974 697_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,974,697 |
| essv7030237 | Remapped | Perfect | NC_000004.11:g.(?_ 156967975)_(156977 628_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 156,967,975 | 156,977,628 |
| essv7030214 | Submitted genomic | NC_000004.10:g.(?_ 157176082)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,176,082 | 157,192,655 | ||
| essv7030215 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157188 477_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,188,477 | ||
| essv7030216 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030217 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030218 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030219 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030220 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030221 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030222 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030223 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030225 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030226 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030227 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030228 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157192 655_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,192,655 | ||
| essv7030229 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030230 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030231 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030232 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030233 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030234 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030236 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157194 147_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,194,147 | ||
| essv7030237 | Submitted genomic | NC_000004.10:g.(?_ 157187425)_(157197 078_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 157,187,425 | 157,197,078 |