esv2763621
- 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:30,118
- 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: 254 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763621 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 17,035,750 | 17,065,867 |
| esv2763621 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 17,217,017 | 17,247,134 |
| esv2763621 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 17,080,498 | 17,110,615 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7010377 | copy number loss | SW_0594 | SNP array | SNP genotyping analysis | 22 |
| essv7010388 | copy number loss | SW_0790 | SNP array | SNP genotyping analysis | 48 |
| essv7010399 | copy number loss | SW_1039 | SNP array | SNP genotyping analysis | 27 |
| essv7010411 | copy number loss | SW_0045 | SNP array | SNP genotyping analysis | 39 |
| essv7010422 | copy number loss | SW_0072 | SNP array | SNP genotyping analysis | 43 |
| essv7010433 | copy number loss | SW_0620 | SNP array | SNP genotyping analysis | 35 |
| essv7010444 | copy number loss | SW_0786 | SNP array | SNP genotyping analysis | 48 |
| essv7010455 | copy number loss | SW_0802 | SNP array | SNP genotyping analysis | 26 |
| essv7010466 | copy number loss | SW_1018 | SNP array | SNP genotyping analysis | 21 |
| essv7010477 | copy number loss | SW_1063 | SNP array | SNP genotyping analysis | 50 |
| essv7010488 | copy number loss | SW_1190 | SNP array | SNP genotyping analysis | 32 |
| essv7010499 | copy number loss | SW_1232 | SNP array | SNP genotyping analysis | 40 |
| essv7010510 | copy number loss | SW_1239 | SNP array | SNP genotyping analysis | 18 |
| essv7010522 | copy number loss | SW_1397 | SNP array | SNP genotyping analysis | 35 |
| essv7010533 | copy number loss | SW_0211 | SNP array | SNP genotyping analysis | 33 |
| essv7010544 | copy number loss | SW_0641 | SNP array | SNP genotyping analysis | 37 |
| essv7010555 | copy number loss | SW_0787 | SNP array | SNP genotyping analysis | 33 |
| essv7010566 | copy number loss | SW_1214 | SNP array | SNP genotyping analysis | 22 |
| essv7010577 | copy number loss | SW_1068 | SNP array | SNP genotyping analysis | 44 |
| essv7010588 | copy number loss | SW_1429 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7010377 | Remapped | Perfect | NC_000002.12:g.(?_ 17035750)_(1706127 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,035,750 | 17,061,270 |
| essv7010388 | Remapped | Perfect | NC_000002.12:g.(?_ 17036583)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,036,583 | 17,056,694 |
| essv7010399 | Remapped | Perfect | NC_000002.12:g.(?_ 17036583)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,036,583 | 17,056,694 |
| essv7010411 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010422 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010433 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010444 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010455 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010466 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010477 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010488 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010499 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010510 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010522 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,056,694 |
| essv7010533 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1706127 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,061,270 |
| essv7010544 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1706127 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,061,270 |
| essv7010555 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1706127 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,061,270 |
| essv7010566 | Remapped | Perfect | NC_000002.12:g.(?_ 17039825)_(1706586 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,039,825 | 17,065,867 |
| essv7010577 | Remapped | Perfect | NC_000002.12:g.(?_ 17041034)_(1705669 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,041,034 | 17,056,694 |
| essv7010588 | Remapped | Perfect | NC_000002.12:g.(?_ 17041034)_(1706127 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,041,034 | 17,061,270 |
| essv7010377 | Remapped | Perfect | NC_000002.11:g.(?_ 17217017)_(1724253 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,217,017 | 17,242,537 |
| essv7010388 | Remapped | Perfect | NC_000002.11:g.(?_ 17217850)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,217,850 | 17,237,961 |
| essv7010399 | Remapped | Perfect | NC_000002.11:g.(?_ 17217850)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,217,850 | 17,237,961 |
| essv7010411 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010422 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010433 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010444 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010455 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010466 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010477 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010488 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010499 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010510 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010522 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,237,961 |
| essv7010533 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1724253 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,242,537 |
| essv7010544 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1724253 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,242,537 |
| essv7010555 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1724253 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,242,537 |
| essv7010566 | Remapped | Perfect | NC_000002.11:g.(?_ 17221092)_(1724713 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,221,092 | 17,247,134 |
| essv7010577 | Remapped | Perfect | NC_000002.11:g.(?_ 17222301)_(1723796 1_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,222,301 | 17,237,961 |
| essv7010588 | Remapped | Perfect | NC_000002.11:g.(?_ 17222301)_(1724253 7_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,222,301 | 17,242,537 |
| essv7010377 | Submitted genomic | NC_000002.10:g.(?_ 17080498)_(1710601 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,080,498 | 17,106,018 | ||
| essv7010388 | Submitted genomic | NC_000002.10:g.(?_ 17081331)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,081,331 | 17,101,442 | ||
| essv7010399 | Submitted genomic | NC_000002.10:g.(?_ 17081331)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,081,331 | 17,101,442 | ||
| essv7010411 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010422 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010433 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010444 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010455 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010466 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010477 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010488 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010499 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010510 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010522 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,101,442 | ||
| essv7010533 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710601 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,106,018 | ||
| essv7010544 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710601 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,106,018 | ||
| essv7010555 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1710601 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,106,018 | ||
| essv7010566 | Submitted genomic | NC_000002.10:g.(?_ 17084573)_(1711061 5_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,084,573 | 17,110,615 | ||
| essv7010577 | Submitted genomic | NC_000002.10:g.(?_ 17085782)_(1710144 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,085,782 | 17,101,442 | ||
| essv7010588 | Submitted genomic | NC_000002.10:g.(?_ 17085782)_(1710601 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 17,085,782 | 17,106,018 |