esv14847
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Yes
- Clinical Assertions: No
- Region Size:28,451
- 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: 356 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv14847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 84,517,365 | 84,545,815 |
| esv14847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 85,060,596 | 85,089,046 |
| esv14847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 82,861,600 | 82,890,050 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv76062 | copy number loss | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
| essv35425 | copy number loss | NA18907 | Oligo aCGH | Probe signal intensity | 1,412 |
| essv50530 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
| essv64576 | copy number loss | NA07045 | Oligo aCGH | Probe signal intensity | 1,341 |
| essv75291 | copy number loss | NA12004 | Oligo aCGH | Probe signal intensity | 1,123 |
| essv76555 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv66765 | copy number loss | NA12828 | Oligo aCGH | Probe signal intensity | 1,072 |
| essv50843 | copy number loss | NA11931 | Oligo aCGH | Probe signal intensity | 1,027 |
| essv80279 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv82992 | copy number loss | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
| essv45655 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv56173 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv60540 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv68599 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv47427 | copy number loss | NA18861 | Oligo aCGH | Probe signal intensity | 1,407 |
| essv79508 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv48671 | copy number loss | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv72131 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv55504 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv76062 | Remapped | Perfect | NC_000015.10:g.(?_ 84516627)_(8454581 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,516,627 | 84,545,815 |
| essv35425 | Remapped | Perfect | NC_000015.10:g.(?_ 84517365)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,517,365 | 84,545,527 |
| essv50530 | Remapped | Perfect | NC_000015.10:g.(?_ 84517417)_(8454365 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,517,417 | 84,543,655 |
| essv64576 | Remapped | Perfect | NC_000015.10:g.(?_ 84517417)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,517,417 | 84,545,527 |
| essv75291 | Remapped | Perfect | NC_000015.10:g.(?_ 84517417)_(8454576 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,517,417 | 84,545,766 |
| essv76555 | Remapped | Perfect | NC_000015.10:g.(?_ 84517472)_(8454573 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,517,472 | 84,545,731 |
| essv66765 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454545 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,453 |
| essv50843 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,527 |
| essv80279 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,527 |
| essv82992 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,527 |
| essv45655 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454576 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,766 |
| essv56173 | Remapped | Perfect | NC_000015.10:g.(?_ 84518066)_(8454581 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,066 | 84,545,815 |
| essv60540 | Remapped | Perfect | NC_000015.10:g.(?_ 84518103)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,103 | 84,545,527 |
| essv68599 | Remapped | Perfect | NC_000015.10:g.(?_ 84518172)_(8454573 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,172 | 84,545,731 |
| essv47427 | Remapped | Perfect | NC_000015.10:g.(?_ 84518362)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,362 | 84,545,527 |
| essv79508 | Remapped | Perfect | NC_000015.10:g.(?_ 84518362)_(8454552 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,518,362 | 84,545,527 |
| essv48671 | Remapped | Perfect | NC_000015.10:g.(?_ 84519148)_(8454413 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,519,148 | 84,544,139 |
| essv72131 | Remapped | Perfect | NC_000015.10:g.(?_ 84519927)_(8454566 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,519,927 | 84,545,661 |
| essv55504 | Remapped | Perfect | NC_000015.10:g.(?_ 84521043)_(8454365 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,521,043 | 84,543,655 |
| essv76062 | Remapped | Perfect | NC_000015.9:g.(?_8 5059858)_(85089046 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,059,858 | 85,089,046 |
| essv35425 | Remapped | Perfect | NC_000015.9:g.(?_8 5060596)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,060,596 | 85,088,758 |
| essv50530 | Remapped | Perfect | NC_000015.9:g.(?_8 5060648)_(85086886 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,060,648 | 85,086,886 |
| essv64576 | Remapped | Perfect | NC_000015.9:g.(?_8 5060648)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,060,648 | 85,088,758 |
| essv75291 | Remapped | Perfect | NC_000015.9:g.(?_8 5060648)_(85088997 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,060,648 | 85,088,997 |
| essv76555 | Remapped | Perfect | NC_000015.9:g.(?_8 5060703)_(85088962 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,060,703 | 85,088,962 |
| essv66765 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85088684 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,088,684 |
| essv50843 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,088,758 |
| essv80279 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,088,758 |
| essv82992 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,088,758 |
| essv45655 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85088997 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,088,997 |
| essv56173 | Remapped | Perfect | NC_000015.9:g.(?_8 5061297)_(85089046 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,297 | 85,089,046 |
| essv60540 | Remapped | Perfect | NC_000015.9:g.(?_8 5061334)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,334 | 85,088,758 |
| essv68599 | Remapped | Perfect | NC_000015.9:g.(?_8 5061403)_(85088962 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,403 | 85,088,962 |
| essv47427 | Remapped | Perfect | NC_000015.9:g.(?_8 5061593)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,593 | 85,088,758 |
| essv79508 | Remapped | Perfect | NC_000015.9:g.(?_8 5061593)_(85088758 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,061,593 | 85,088,758 |
| essv48671 | Remapped | Perfect | NC_000015.9:g.(?_8 5062379)_(85087370 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,062,379 | 85,087,370 |
| essv72131 | Remapped | Perfect | NC_000015.9:g.(?_8 5063158)_(85088892 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,063,158 | 85,088,892 |
| essv55504 | Remapped | Perfect | NC_000015.9:g.(?_8 5064274)_(85086886 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 85,064,274 | 85,086,886 |
| essv76062 | Submitted genomic | NC_000015.8:g.(?_8 2860862)_(82890050 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,860,862 | 82,890,050 | ||
| essv35425 | Submitted genomic | NC_000015.8:g.(?_8 2861600)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,861,600 | 82,889,762 | ||
| essv50530 | Submitted genomic | NC_000015.8:g.(?_8 2861652)_(82887890 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,861,652 | 82,887,890 | ||
| essv64576 | Submitted genomic | NC_000015.8:g.(?_8 2861652)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,861,652 | 82,889,762 | ||
| essv75291 | Submitted genomic | NC_000015.8:g.(?_8 2861652)_(82890001 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,861,652 | 82,890,001 | ||
| essv76555 | Submitted genomic | NC_000015.8:g.(?_8 2861707)_(82889966 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,861,707 | 82,889,966 | ||
| essv66765 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82889688 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,889,688 | ||
| essv50843 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,889,762 | ||
| essv80279 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,889,762 | ||
| essv82992 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,889,762 | ||
| essv45655 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82890001 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,890,001 | ||
| essv56173 | Submitted genomic | NC_000015.8:g.(?_8 2862301)_(82890050 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,301 | 82,890,050 | ||
| essv60540 | Submitted genomic | NC_000015.8:g.(?_8 2862338)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,338 | 82,889,762 | ||
| essv68599 | Submitted genomic | NC_000015.8:g.(?_8 2862407)_(82889966 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,407 | 82,889,966 | ||
| essv47427 | Submitted genomic | NC_000015.8:g.(?_8 2862597)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,597 | 82,889,762 | ||
| essv79508 | Submitted genomic | NC_000015.8:g.(?_8 2862597)_(82889762 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,862,597 | 82,889,762 | ||
| essv48671 | Submitted genomic | NC_000015.8:g.(?_8 2863383)_(82888374 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,863,383 | 82,888,374 | ||
| essv72131 | Submitted genomic | NC_000015.8:g.(?_8 2864162)_(82889896 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,864,162 | 82,889,896 | ||
| essv55504 | Submitted genomic | NC_000015.8:g.(?_8 2865278)_(82887890 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,865,278 | 82,887,890 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv48671 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
| essv64576 | 2 | NA07045 | Oligo aCGH | Probe signal intensity | Pass |
| essv50843 | 2 | NA11931 | Oligo aCGH | Probe signal intensity | Pass |
| essv80279 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv75291 | 2 | NA12004 | Oligo aCGH | Probe signal intensity | Pass |
| essv76062 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
| essv79508 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56173 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv66765 | 2 | NA12828 | Oligo aCGH | Probe signal intensity | Pass |
| essv76555 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv50530 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
| essv60540 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
| essv68599 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
| essv47427 | 2 | NA18861 | Oligo aCGH | Probe signal intensity | Pass |
| essv35425 | 2 | NA18907 | Oligo aCGH | Probe signal intensity | Pass |
| essv55504 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv45655 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
| essv82992 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |
| essv72131 | 2 | NA19225 | Oligo aCGH | Probe signal intensity | Pass |