esv2764003
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,562
- 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: 454 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2764003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| esv2764003 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| esv2764003 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| esv2764003 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| esv2764003 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 250,149 | 253,709 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7033310 | copy number loss | SW_0008 | SNP array | SNP genotyping analysis | 47 |
| essv7033311 | copy number loss | SW_0100 | SNP array | SNP genotyping analysis | 38 |
| essv7033313 | copy number loss | SW_0165 | SNP array | SNP genotyping analysis | 48 |
| essv7033314 | copy number loss | SW_0202 | SNP array | SNP genotyping analysis | 25 |
| essv7033315 | copy number loss | SW_0379 | SNP array | SNP genotyping analysis | 43 |
| essv7033316 | copy number loss | SW_0605 | SNP array | SNP genotyping analysis | 40 |
| essv7033317 | copy number loss | SW_0819 | SNP array | SNP genotyping analysis | 23 |
| essv7033318 | copy number loss | SW_0841 | SNP array | SNP genotyping analysis | 37 |
| essv7033319 | copy number loss | SW_1026 | SNP array | SNP genotyping analysis | 48 |
| essv7033320 | copy number loss | SW_1068 | SNP array | SNP genotyping analysis | 44 |
| essv7033321 | copy number loss | SW_1105 | SNP array | SNP genotyping analysis | 49 |
| essv7033322 | copy number loss | SW_1194 | SNP array | SNP genotyping analysis | 34 |
| essv7033324 | copy number loss | SW_1208 | SNP array | SNP genotyping analysis | 38 |
| essv7033325 | copy number loss | SW_1295 | SNP array | SNP genotyping analysis | 44 |
| essv7033326 | copy number loss | SW_1314 | SNP array | SNP genotyping analysis | 31 |
| essv7033327 | copy number loss | SW_1317 | SNP array | SNP genotyping analysis | 24 |
| essv7033328 | copy number loss | SW_1318 | SNP array | SNP genotyping analysis | 38 |
| essv7033329 | copy number loss | SW_1384 | SNP array | SNP genotyping analysis | 41 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7033310 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033311 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033313 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033314 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033315 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033316 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033317 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033318 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033319 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033320 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033321 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033322 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033324 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033325 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033326 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033327 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033328 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033329 | Remapped | Good | NT_187558.1:g.(?_1 10871)_(114432_?)d el | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 110,871 | 114,432 |
| essv7033310 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033311 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033313 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033314 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033315 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033316 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033317 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033318 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033319 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033320 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033321 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033322 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033324 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033325 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033326 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033327 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033328 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033329 | Remapped | Perfect | NT_187653.1:g.(?_1 47387)_(150947_?)d el | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 147,387 | 150,947 |
| essv7033310 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033311 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033313 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033314 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033315 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033316 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033317 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033318 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033319 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033320 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033321 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033322 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033324 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033325 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033326 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033327 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033328 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033329 | Remapped | Perfect | NC_000007.14:g.(?_ 155066)_(158626_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 155,066 | 158,626 |
| essv7033310 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033311 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033313 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033314 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033315 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033316 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033317 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033318 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033319 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033320 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033321 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033322 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033324 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033325 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033326 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033327 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033328 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033329 | Remapped | Perfect | NC_000007.13:g.(?_ 155066)_(158626_?) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,066 | 158,626 |
| essv7033310 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033311 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033313 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033314 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033315 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033316 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033317 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033318 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033319 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033320 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033321 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033322 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033324 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033325 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033326 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033327 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033328 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 | ||
| essv7033329 | Submitted genomic | NC_000007.12:g.(?_ 250149)_(253709_?) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 250,149 | 253,709 |