esv17490
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,006
- 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: 283 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|
esv17490 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 74,402,842 | 74,417,847 |
esv17490 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 75,315,077 | 75,330,082 |
esv17490 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 75,477,632 | 75,492,637 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv33351 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
essv38456 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
essv46414 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
essv71113 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
essv34534 | copy number loss | NA18502 | Oligo aCGH | Probe signal intensity | 1,373 |
essv50614 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
essv68703 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
essv65944 | copy number loss | NA19240 | Oligo aCGH | Probe signal intensity | 1,563 |
essv82373 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv33351 | Remapped | Perfect | NC_000008.11:g.(?_ 74402842)_(7441746 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,842 | 74,417,463 |
essv38456 | Remapped | Perfect | NC_000008.11:g.(?_ 74402941)_(7441746 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,941 | 74,417,463 |
essv46414 | Remapped | Perfect | NC_000008.11:g.(?_ 74402941)_(7441746 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,941 | 74,417,463 |
essv71113 | Remapped | Perfect | NC_000008.11:g.(?_ 74402941)_(7441784 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,941 | 74,417,847 |
essv34534 | Remapped | Perfect | NC_000008.11:g.(?_ 74402952)_(7441784 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,952 | 74,417,847 |
essv50614 | Remapped | Perfect | NC_000008.11:g.(?_ 74402952)_(7441784 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,402,952 | 74,417,847 |
essv68703 | Remapped | Perfect | NC_000008.11:g.(?_ 74403012)_(7441784 7_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,403,012 | 74,417,847 |
essv65944 | Remapped | Perfect | NC_000008.11:g.(?_ 74403109)_(7441746 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,403,109 | 74,417,463 |
essv82373 | Remapped | Perfect | NC_000008.11:g.(?_ 74403109)_(7441746 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 74,403,109 | 74,417,463 |
essv33351 | Remapped | Perfect | NC_000008.10:g.(?_ 75315077)_(7532969 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,077 | 75,329,698 |
essv38456 | Remapped | Perfect | NC_000008.10:g.(?_ 75315176)_(7532969 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,176 | 75,329,698 |
essv46414 | Remapped | Perfect | NC_000008.10:g.(?_ 75315176)_(7532969 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,176 | 75,329,698 |
essv71113 | Remapped | Perfect | NC_000008.10:g.(?_ 75315176)_(7533008 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,176 | 75,330,082 |
essv34534 | Remapped | Perfect | NC_000008.10:g.(?_ 75315187)_(7533008 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,187 | 75,330,082 |
essv50614 | Remapped | Perfect | NC_000008.10:g.(?_ 75315187)_(7533008 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,187 | 75,330,082 |
essv68703 | Remapped | Perfect | NC_000008.10:g.(?_ 75315247)_(7533008 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,247 | 75,330,082 |
essv65944 | Remapped | Perfect | NC_000008.10:g.(?_ 75315344)_(7532969 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,344 | 75,329,698 |
essv82373 | Remapped | Perfect | NC_000008.10:g.(?_ 75315344)_(7532969 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 75,315,344 | 75,329,698 |
essv33351 | Submitted genomic | NC_000008.9:g.(?_7 5477632)_(75492253 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,632 | 75,492,253 | ||
essv38456 | Submitted genomic | NC_000008.9:g.(?_7 5477731)_(75492253 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,731 | 75,492,253 | ||
essv46414 | Submitted genomic | NC_000008.9:g.(?_7 5477731)_(75492253 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,731 | 75,492,253 | ||
essv71113 | Submitted genomic | NC_000008.9:g.(?_7 5477731)_(75492637 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,731 | 75,492,637 | ||
essv34534 | Submitted genomic | NC_000008.9:g.(?_7 5477742)_(75492637 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,742 | 75,492,637 | ||
essv50614 | Submitted genomic | NC_000008.9:g.(?_7 5477742)_(75492637 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,742 | 75,492,637 | ||
essv68703 | Submitted genomic | NC_000008.9:g.(?_7 5477802)_(75492637 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,802 | 75,492,637 | ||
essv65944 | Submitted genomic | NC_000008.9:g.(?_7 5477899)_(75492253 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,899 | 75,492,253 | ||
essv82373 | Submitted genomic | NC_000008.9:g.(?_7 5477899)_(75492253 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 75,477,899 | 75,492,253 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv34534 | 2 | NA18502 | Oligo aCGH | Probe signal intensity | Pass |
essv50614 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
essv68703 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
essv71113 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
essv82373 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
essv46414 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
essv33351 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |
essv65944 | 2 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |
essv38456 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |