esv2761010
- Organism: Homo sapiens
- Study:estd203 (Vogler 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:314,221
- 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: 1351 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1351 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 432 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761010 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 63,437,305 | 63,751,525 |
| esv2761010 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 63,831,085 | 64,145,305 |
| esv2761010 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 62,117,352 | 62,431,572 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6997407 | copy number gain | SW_1472 | SNP array | SNP genotyping analysis | 39 |
| essv6997408 | copy number gain | SW_1259 | SNP array | SNP genotyping analysis | 31 |
| essv6997409 | copy number loss | SW_0659 | SNP array | SNP genotyping analysis | 35 |
| essv6997413 | copy number gain | SW_0675 | SNP array | SNP genotyping analysis | 35 |
| essv6997414 | copy number gain | SW_1240 | SNP array | SNP genotyping analysis | 35 |
| essv6997415 | copy number gain | SW_1448 | SNP array | SNP genotyping analysis | 22 |
| essv6997416 | copy number gain | SW_1457 | SNP array | SNP genotyping analysis | 26 |
| essv6997417 | copy number gain | SW_1412 | SNP array | SNP genotyping analysis | 30 |
| essv6997418 | copy number gain | SW_1475 | SNP array | SNP genotyping analysis | 20 |
| essv6997419 | copy number gain | SW_0339 | SNP array | SNP genotyping analysis | 39 |
| essv6997420 | copy number loss | SW_0575 | SNP array | SNP genotyping analysis | 25 |
| essv6997421 | copy number loss | SW_1463 | SNP array | SNP genotyping analysis | 29 |
| essv6997422 | copy number loss | SW_1192 | SNP array | SNP genotyping analysis | 29 |
| essv6997424 | copy number gain | SW_0049 | SNP array | SNP genotyping analysis | 49 |
| essv6997425 | copy number gain | SW_0648 | SNP array | SNP genotyping analysis | 41 |
| essv6997426 | copy number gain | SW_1436 | SNP array | SNP genotyping analysis | 64 |
| essv6997427 | copy number gain | SW_0341 | SNP array | SNP genotyping analysis | 25 |
| essv6997428 | copy number gain | SW_1070 | SNP array | SNP genotyping analysis | 37 |
| essv6997429 | copy number gain | SW_1195 | SNP array | SNP genotyping analysis | 22 |
| essv6997430 | copy number gain | SW_1244 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6997407 | Remapped | Perfect | NC_000012.12:g.(?_ 63437305)_(6353102 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,437,305 | 63,531,025 |
| essv6997408 | Remapped | Perfect | NC_000012.12:g.(?_ 63442814)_(6353918 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,442,814 | 63,539,183 |
| essv6997409 | Remapped | Perfect | NC_000012.12:g.(?_ 63531025)_(6373444 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,531,025 | 63,734,445 |
| essv6997413 | Remapped | Perfect | NC_000012.12:g.(?_ 63539183)_(6373444 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,539,183 | 63,734,445 |
| essv6997414 | Remapped | Perfect | NC_000012.12:g.(?_ 63539183)_(6374287 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,539,183 | 63,742,874 |
| essv6997415 | Remapped | Perfect | NC_000012.12:g.(?_ 63539183)_(6374287 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,539,183 | 63,742,874 |
| essv6997416 | Remapped | Perfect | NC_000012.12:g.(?_ 63539183)_(6374287 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,539,183 | 63,742,874 |
| essv6997417 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6372686 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,726,862 |
| essv6997418 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6372686 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,726,862 |
| essv6997419 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6373444 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,734,445 |
| essv6997420 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6373444 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,734,445 |
| essv6997421 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6373444 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,734,445 |
| essv6997422 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6374287 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,742,874 |
| essv6997424 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6375152 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,751,525 |
| essv6997425 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6375152 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,751,525 |
| essv6997426 | Remapped | Perfect | NC_000012.12:g.(?_ 63545944)_(6375152 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,545,944 | 63,751,525 |
| essv6997427 | Remapped | Perfect | NC_000012.12:g.(?_ 63554371)_(6375152 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,554,371 | 63,751,525 |
| essv6997428 | Remapped | Perfect | NC_000012.12:g.(?_ 63567670)_(6373444 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,567,670 | 63,734,445 |
| essv6997429 | Remapped | Perfect | NC_000012.12:g.(?_ 63567670)_(6374287 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,567,670 | 63,742,874 |
| essv6997430 | Remapped | Perfect | NC_000012.12:g.(?_ 63581417)_(6373444 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 63,581,417 | 63,734,445 |
| essv6997407 | Remapped | Perfect | NC_000012.11:g.(?_ 63831085)_(6392480 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,831,085 | 63,924,805 |
| essv6997408 | Remapped | Perfect | NC_000012.11:g.(?_ 63836594)_(6393296 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,836,594 | 63,932,963 |
| essv6997409 | Remapped | Perfect | NC_000012.11:g.(?_ 63924805)_(6412822 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,924,805 | 64,128,225 |
| essv6997413 | Remapped | Perfect | NC_000012.11:g.(?_ 63932963)_(6412822 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,932,963 | 64,128,225 |
| essv6997414 | Remapped | Perfect | NC_000012.11:g.(?_ 63932963)_(6413665 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,932,963 | 64,136,654 |
| essv6997415 | Remapped | Perfect | NC_000012.11:g.(?_ 63932963)_(6413665 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,932,963 | 64,136,654 |
| essv6997416 | Remapped | Perfect | NC_000012.11:g.(?_ 63932963)_(6413665 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,932,963 | 64,136,654 |
| essv6997417 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6412064 2_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,120,642 |
| essv6997418 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6412064 2_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,120,642 |
| essv6997419 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6412822 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,128,225 |
| essv6997420 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6412822 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,128,225 |
| essv6997421 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6412822 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,128,225 |
| essv6997422 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6413665 4_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,136,654 |
| essv6997424 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6414530 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,145,305 |
| essv6997425 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6414530 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,145,305 |
| essv6997426 | Remapped | Perfect | NC_000012.11:g.(?_ 63939724)_(6414530 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,939,724 | 64,145,305 |
| essv6997427 | Remapped | Perfect | NC_000012.11:g.(?_ 63948151)_(6414530 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,948,151 | 64,145,305 |
| essv6997428 | Remapped | Perfect | NC_000012.11:g.(?_ 63961450)_(6412822 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,961,450 | 64,128,225 |
| essv6997429 | Remapped | Perfect | NC_000012.11:g.(?_ 63961450)_(6413665 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,961,450 | 64,136,654 |
| essv6997430 | Remapped | Perfect | NC_000012.11:g.(?_ 63975197)_(6412822 5_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 63,975,197 | 64,128,225 |
| essv6997407 | Submitted genomic | NC_000012.10:g.(?_ 62117352)_(6221107 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,117,352 | 62,211,072 | ||
| essv6997408 | Submitted genomic | NC_000012.10:g.(?_ 62122861)_(6221923 0_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,122,861 | 62,219,230 | ||
| essv6997409 | Submitted genomic | NC_000012.10:g.(?_ 62211072)_(6241449 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,211,072 | 62,414,492 | ||
| essv6997413 | Submitted genomic | NC_000012.10:g.(?_ 62219230)_(6241449 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,219,230 | 62,414,492 | ||
| essv6997414 | Submitted genomic | NC_000012.10:g.(?_ 62219230)_(6242292 1_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,219,230 | 62,422,921 | ||
| essv6997415 | Submitted genomic | NC_000012.10:g.(?_ 62219230)_(6242292 1_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,219,230 | 62,422,921 | ||
| essv6997416 | Submitted genomic | NC_000012.10:g.(?_ 62219230)_(6242292 1_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,219,230 | 62,422,921 | ||
| essv6997417 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6240690 9_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,406,909 | ||
| essv6997418 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6240690 9_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,406,909 | ||
| essv6997419 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6241449 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,414,492 | ||
| essv6997420 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6241449 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,414,492 | ||
| essv6997421 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6241449 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,414,492 | ||
| essv6997422 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6242292 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,422,921 | ||
| essv6997424 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6243157 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,431,572 | ||
| essv6997425 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6243157 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,431,572 | ||
| essv6997426 | Submitted genomic | NC_000012.10:g.(?_ 62225991)_(6243157 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,225,991 | 62,431,572 | ||
| essv6997427 | Submitted genomic | NC_000012.10:g.(?_ 62234418)_(6243157 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,234,418 | 62,431,572 | ||
| essv6997428 | Submitted genomic | NC_000012.10:g.(?_ 62247717)_(6241449 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,247,717 | 62,414,492 | ||
| essv6997429 | Submitted genomic | NC_000012.10:g.(?_ 62247717)_(6242292 1_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,247,717 | 62,422,921 | ||
| essv6997430 | Submitted genomic | NC_000012.10:g.(?_ 62261464)_(6241449 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 62,261,464 | 62,414,492 |