esv13282
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:68,942
- Publication(s):Conrad et al. 2009
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: 251 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv13282 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 60,073 | 129,014 |
| esv13282 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 10,073 | 79,014 |
| esv13282 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 73 | 69,014 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv81925 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
| essv75518 | copy number loss | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
| essv37477 | copy number loss | NA11894 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv56073 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv39212 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
| essv51709 | copy number loss | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
| essv61650 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
| essv67717 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv79444 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv80770 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv81925 | Remapped | Perfect | NC_000008.11:g.(?_ 60073)_(126792_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 60,073 | 126,792 |
| essv75518 | Remapped | Perfect | NC_000008.11:g.(?_ 67075)_(118390_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 67,075 | 118,390 |
| essv37477 | Remapped | Perfect | NC_000008.11:g.(?_ 71715)_(115609_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 71,715 | 115,609 |
| essv56073 | Remapped | Perfect | NC_000008.11:g.(?_ 71715)_(117182_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 71,715 | 117,182 |
| essv39212 | Remapped | Perfect | NC_000008.11:g.(?_ 71788)_(117239_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 71,788 | 117,239 |
| essv51709 | Remapped | Perfect | NC_000008.11:g.(?_ 71919)_(116148_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 71,919 | 116,148 |
| essv61650 | Remapped | Perfect | NC_000008.11:g.(?_ 72080)_(116329_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 72,080 | 116,329 |
| essv67717 | Remapped | Perfect | NC_000008.11:g.(?_ 72519)_(129014_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 72,519 | 129,014 |
| essv79444 | Remapped | Perfect | NC_000008.11:g.(?_ 73365)_(126723_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 73,365 | 126,723 |
| essv80770 | Remapped | Perfect | NC_000008.11:g.(?_ 78895)_(115689_?)d el | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 78,895 | 115,689 |
| essv81925 | Remapped | Perfect | NC_000008.10:g.(?_ 10073)_(76792_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 10,073 | 76,792 |
| essv75518 | Remapped | Perfect | NC_000008.10:g.(?_ 17075)_(68390_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 17,075 | 68,390 |
| essv37477 | Remapped | Perfect | NC_000008.10:g.(?_ 21715)_(65609_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,715 | 65,609 |
| essv56073 | Remapped | Perfect | NC_000008.10:g.(?_ 21715)_(67182_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,715 | 67,182 |
| essv39212 | Remapped | Perfect | NC_000008.10:g.(?_ 21788)_(67239_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,788 | 67,239 |
| essv51709 | Remapped | Perfect | NC_000008.10:g.(?_ 21919)_(66148_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,919 | 66,148 |
| essv61650 | Remapped | Perfect | NC_000008.10:g.(?_ 22080)_(66329_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 22,080 | 66,329 |
| essv67717 | Remapped | Perfect | NC_000008.10:g.(?_ 22519)_(79014_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 22,519 | 79,014 |
| essv79444 | Remapped | Perfect | NC_000008.10:g.(?_ 23365)_(76723_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 23,365 | 76,723 |
| essv80770 | Remapped | Perfect | NC_000008.10:g.(?_ 28895)_(65689_?)de l | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 28,895 | 65,689 |
| essv81925 | Submitted genomic | NC_000008.9:g.(?_7 3)_(66792_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 73 | 66,792 | ||
| essv75518 | Submitted genomic | NC_000008.9:g.(?_7 075)_(58390_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,075 | 58,390 | ||
| essv37477 | Submitted genomic | NC_000008.9:g.(?_1 1715)_(55609_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 11,715 | 55,609 | ||
| essv56073 | Submitted genomic | NC_000008.9:g.(?_1 1715)_(57182_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 11,715 | 57,182 | ||
| essv39212 | Submitted genomic | NC_000008.9:g.(?_1 1788)_(57239_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 11,788 | 57,239 | ||
| essv51709 | Submitted genomic | NC_000008.9:g.(?_1 1919)_(56148_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 11,919 | 56,148 | ||
| essv61650 | Submitted genomic | NC_000008.9:g.(?_1 2080)_(56329_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,080 | 56,329 | ||
| essv67717 | Submitted genomic | NC_000008.9:g.(?_1 2519)_(69014_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,519 | 69,014 | ||
| essv79444 | Submitted genomic | NC_000008.9:g.(?_1 3365)_(66723_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 13,365 | 66,723 | ||
| essv80770 | Submitted genomic | NC_000008.9:g.(?_1 8895)_(55689_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 18,895 | 55,689 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv37477 | 2 | NA11894 | Oligo aCGH | Probe signal intensity | Pass |
| essv80770 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv51709 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
| essv61650 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
| essv39212 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv75518 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
| essv79444 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56073 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv67717 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
| essv81925 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |