esv20564
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Yes
- Clinical Assertions: No
- Region Size:57,769
- 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: 455 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 455 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv20564 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 37,148,725 | 37,206,493 |
| esv20564 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 37,437,653 | 37,495,421 |
| esv20564 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 37,477,659 | 37,535,427 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv52017 | copy number loss | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
| essv33095 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
| essv79812 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv57245 | copy number loss | NA11993 | Oligo aCGH | Probe signal intensity | 1,116 |
| essv48366 | copy number loss | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv43153 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv80023 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv68205 | copy number gain | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv41898 | copy number gain | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv46691 | copy number gain | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv63315 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv74672 | copy number loss | NA12004 | Oligo aCGH | Probe signal intensity | 1,123 |
| essv73290 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv56507 | copy number gain | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv39972 | copy number loss | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
| essv50996 | copy number loss | NA11931 | Oligo aCGH | Probe signal intensity | 1,027 |
| essv45151 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
| essv61443 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
| essv64658 | copy number loss | NA07045 | Oligo aCGH | Probe signal intensity | 1,341 |
| essv36965 | copy number loss | NA11894 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv81496 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv52017 | Remapped | Perfect | NC_000010.11:g.(?_ 37148387)_(3719787 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,148,387 | 37,197,878 |
| essv33095 | Remapped | Perfect | NC_000010.11:g.(?_ 37148387)_(3720185 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,148,387 | 37,201,854 |
| essv79812 | Remapped | Perfect | NC_000010.11:g.(?_ 37148725)_(3719792 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,148,725 | 37,197,929 |
| essv57245 | Remapped | Perfect | NC_000010.11:g.(?_ 37149406)_(3719748 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,149,406 | 37,197,480 |
| essv48366 | Remapped | Perfect | NC_000010.11:g.(?_ 37150298)_(3720649 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,150,298 | 37,206,493 |
| essv43153 | Remapped | Perfect | NC_000010.11:g.(?_ 37151049)_(3719376 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,151,049 | 37,193,766 |
| essv80023 | Remapped | Perfect | NC_000010.11:g.(?_ 37151049)_(3720199 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,151,049 | 37,201,999 |
| essv68205 | Remapped | Perfect | NC_000010.11:g.(?_ 37151124)_(3720185 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,151,124 | 37,201,854 |
| essv41898 | Remapped | Perfect | NC_000010.11:g.(?_ 37151124)_(3720684 5_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,151,124 | 37,206,845 |
| essv46691 | Remapped | Perfect | NC_000010.11:g.(?_ 37157223)_(3719748 0_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,157,223 | 37,197,480 |
| essv63315 | Remapped | Perfect | NC_000010.11:g.(?_ 37157296)_(3719546 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,157,296 | 37,195,469 |
| essv74672 | Remapped | Perfect | NC_000010.11:g.(?_ 37157296)_(3719787 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,157,296 | 37,197,878 |
| essv73290 | Remapped | Perfect | NC_000010.11:g.(?_ 37157372)_(3720649 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,157,372 | 37,206,493 |
| essv56507 | Remapped | Perfect | NC_000010.11:g.(?_ 37162149)_(3719776 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,149 | 37,197,762 |
| essv39972 | Remapped | Perfect | NC_000010.11:g.(?_ 37162214)_(3720696 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,214 | 37,206,969 |
| essv50996 | Remapped | Perfect | NC_000010.11:g.(?_ 37162730)_(3719846 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,730 | 37,198,469 |
| essv45151 | Remapped | Perfect | NC_000010.11:g.(?_ 37162730)_(3720096 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,730 | 37,200,968 |
| essv61443 | Remapped | Perfect | NC_000010.11:g.(?_ 37162869)_(3719787 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,869 | 37,197,878 |
| essv64658 | Remapped | Perfect | NC_000010.11:g.(?_ 37162990)_(3719748 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,990 | 37,197,480 |
| essv36965 | Remapped | Perfect | NC_000010.11:g.(?_ 37162990)_(3719831 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,162,990 | 37,198,314 |
| essv81496 | Remapped | Perfect | NC_000010.11:g.(?_ 37165491)_(3720053 4_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 37,165,491 | 37,200,534 |
| essv52017 | Remapped | Perfect | NC_000010.10:g.(?_ 37437315)_(3748680 6_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,437,315 | 37,486,806 |
| essv33095 | Remapped | Perfect | NC_000010.10:g.(?_ 37437315)_(3749078 2_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,437,315 | 37,490,782 |
| essv79812 | Remapped | Perfect | NC_000010.10:g.(?_ 37437653)_(3748685 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,437,653 | 37,486,857 |
| essv57245 | Remapped | Perfect | NC_000010.10:g.(?_ 37438334)_(3748640 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,438,334 | 37,486,408 |
| essv48366 | Remapped | Perfect | NC_000010.10:g.(?_ 37439226)_(3749542 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,439,226 | 37,495,421 |
| essv43153 | Remapped | Perfect | NC_000010.10:g.(?_ 37439977)_(3748269 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,439,977 | 37,482,694 |
| essv80023 | Remapped | Perfect | NC_000010.10:g.(?_ 37439977)_(3749092 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,439,977 | 37,490,927 |
| essv68205 | Remapped | Perfect | NC_000010.10:g.(?_ 37440052)_(3749078 2_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,440,052 | 37,490,782 |
| essv41898 | Remapped | Perfect | NC_000010.10:g.(?_ 37440052)_(3749577 3_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,440,052 | 37,495,773 |
| essv46691 | Remapped | Perfect | NC_000010.10:g.(?_ 37446151)_(3748640 8_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,446,151 | 37,486,408 |
| essv63315 | Remapped | Perfect | NC_000010.10:g.(?_ 37446224)_(3748439 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,446,224 | 37,484,397 |
| essv74672 | Remapped | Perfect | NC_000010.10:g.(?_ 37446224)_(3748680 6_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,446,224 | 37,486,806 |
| essv73290 | Remapped | Perfect | NC_000010.10:g.(?_ 37446300)_(3749542 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,446,300 | 37,495,421 |
| essv56507 | Remapped | Perfect | NC_000010.10:g.(?_ 37451077)_(3748669 0_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,077 | 37,486,690 |
| essv39972 | Remapped | Perfect | NC_000010.10:g.(?_ 37451142)_(3749589 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,142 | 37,495,897 |
| essv50996 | Remapped | Perfect | NC_000010.10:g.(?_ 37451658)_(3748739 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,658 | 37,487,397 |
| essv45151 | Remapped | Perfect | NC_000010.10:g.(?_ 37451658)_(3748989 6_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,658 | 37,489,896 |
| essv61443 | Remapped | Perfect | NC_000010.10:g.(?_ 37451797)_(3748680 6_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,797 | 37,486,806 |
| essv64658 | Remapped | Perfect | NC_000010.10:g.(?_ 37451918)_(3748640 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,918 | 37,486,408 |
| essv36965 | Remapped | Perfect | NC_000010.10:g.(?_ 37451918)_(3748724 2_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,451,918 | 37,487,242 |
| essv81496 | Remapped | Perfect | NC_000010.10:g.(?_ 37454419)_(3748946 2_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 37,454,419 | 37,489,462 |
| essv52017 | Submitted genomic | NC_000010.9:g.(?_3 7477321)_(37526812 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,477,321 | 37,526,812 | ||
| essv33095 | Submitted genomic | NC_000010.9:g.(?_3 7477321)_(37530788 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,477,321 | 37,530,788 | ||
| essv79812 | Submitted genomic | NC_000010.9:g.(?_3 7477659)_(37526863 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,477,659 | 37,526,863 | ||
| essv57245 | Submitted genomic | NC_000010.9:g.(?_3 7478340)_(37526414 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,478,340 | 37,526,414 | ||
| essv48366 | Submitted genomic | NC_000010.9:g.(?_3 7479232)_(37535427 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,479,232 | 37,535,427 | ||
| essv43153 | Submitted genomic | NC_000010.9:g.(?_3 7479983)_(37522700 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,479,983 | 37,522,700 | ||
| essv80023 | Submitted genomic | NC_000010.9:g.(?_3 7479983)_(37530933 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,479,983 | 37,530,933 | ||
| essv68205 | Submitted genomic | NC_000010.9:g.(?_3 7480058)_(37530788 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,480,058 | 37,530,788 | ||
| essv41898 | Submitted genomic | NC_000010.9:g.(?_3 7480058)_(37535779 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,480,058 | 37,535,779 | ||
| essv46691 | Submitted genomic | NC_000010.9:g.(?_3 7486157)_(37526414 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,486,157 | 37,526,414 | ||
| essv63315 | Submitted genomic | NC_000010.9:g.(?_3 7486230)_(37524403 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,486,230 | 37,524,403 | ||
| essv74672 | Submitted genomic | NC_000010.9:g.(?_3 7486230)_(37526812 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,486,230 | 37,526,812 | ||
| essv73290 | Submitted genomic | NC_000010.9:g.(?_3 7486306)_(37535427 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,486,306 | 37,535,427 | ||
| essv56507 | Submitted genomic | NC_000010.9:g.(?_3 7491083)_(37526696 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,083 | 37,526,696 | ||
| essv39972 | Submitted genomic | NC_000010.9:g.(?_3 7491148)_(37535903 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,148 | 37,535,903 | ||
| essv50996 | Submitted genomic | NC_000010.9:g.(?_3 7491664)_(37527403 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,664 | 37,527,403 | ||
| essv45151 | Submitted genomic | NC_000010.9:g.(?_3 7491664)_(37529902 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,664 | 37,529,902 | ||
| essv61443 | Submitted genomic | NC_000010.9:g.(?_3 7491803)_(37526812 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,803 | 37,526,812 | ||
| essv64658 | Submitted genomic | NC_000010.9:g.(?_3 7491924)_(37526414 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,924 | 37,526,414 | ||
| essv36965 | Submitted genomic | NC_000010.9:g.(?_3 7491924)_(37527248 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,491,924 | 37,527,248 | ||
| essv81496 | Submitted genomic | NC_000010.9:g.(?_3 7494425)_(37529468 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 37,494,425 | 37,529,468 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv48366 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
| essv64658 | 2 | NA07045 | Oligo aCGH | Probe signal intensity | Pass |
| essv36965 | 2 | NA11894 | Oligo aCGH | Probe signal intensity | Pass |
| essv50996 | 2 | NA11931 | Oligo aCGH | Probe signal intensity | Pass |
| essv57245 | 2 | NA11993 | Oligo aCGH | Probe signal intensity | Pass |
| essv80023 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv74672 | 2 | NA12004 | Oligo aCGH | Probe signal intensity | Pass |
| essv52017 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
| essv73290 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv61443 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
| essv45151 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
| essv79812 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56507 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv39972 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv63315 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv41898 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv68205 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
| essv43153 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv81496 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
| essv46691 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
| essv33095 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |