esv10195
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,117
- 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: 197 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 91 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 | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv10195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 8,611,559 | 8,625,675 |
esv10195 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 8,671,618 | 8,685,734 |
esv10195 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 8,594,205 | 8,608,321 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv41052 | copy number loss | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
essv58369 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
essv73403 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
essv70430 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
essv57705 | copy number loss | NA11993 | Oligo aCGH | Probe signal intensity | 1,116 |
essv61132 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
essv44197 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
essv49938 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
essv52643 | copy number loss | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
essv46463 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
essv76599 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
essv59644 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
essv53905 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
essv76155 | copy number loss | NA12414 | Oligo aCGH | Probe signal intensity | 1,122 |
essv75182 | copy number loss | NA12004 | Oligo aCGH | Probe signal intensity | 1,123 |
essv39106 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
essv62367 | copy number gain | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv41052 | Remapped | Perfect | NC_000001.11:g.(?_ 8610856)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,610,856 | 8,625,331 |
essv58369 | Remapped | Perfect | NC_000001.11:g.(?_ 8611559)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,611,559 | 8,625,331 |
essv73403 | Remapped | Perfect | NC_000001.11:g.(?_ 8611836)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,611,836 | 8,625,331 |
essv70430 | Remapped | Perfect | NC_000001.11:g.(?_ 8611836)_(8625424_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,611,836 | 8,625,424 |
essv57705 | Remapped | Perfect | NC_000001.11:g.(?_ 8611836)_(8625675_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,611,836 | 8,625,675 |
essv61132 | Remapped | Perfect | NC_000001.11:g.(?_ 8612645)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,645 | 8,625,331 |
essv44197 | Remapped | Perfect | NC_000001.11:g.(?_ 8612711)_(8627115_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,711 | 8,627,115 |
essv49938 | Remapped | Perfect | NC_000001.11:g.(?_ 8612841)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,841 | 8,625,106 |
essv52643 | Remapped | Perfect | NC_000001.11:g.(?_ 8612896)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,896 | 8,625,106 |
essv46463 | Remapped | Perfect | NC_000001.11:g.(?_ 8612998)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,998 | 8,625,106 |
essv76599 | Remapped | Perfect | NC_000001.11:g.(?_ 8612998)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,612,998 | 8,625,106 |
essv59644 | Remapped | Perfect | NC_000001.11:g.(?_ 8613187)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,613,187 | 8,625,331 |
essv53905 | Remapped | Perfect | NC_000001.11:g.(?_ 8613251)_(8625441_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,613,251 | 8,625,441 |
essv76155 | Remapped | Perfect | NC_000001.11:g.(?_ 8614277)_(8625331_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,614,277 | 8,625,331 |
essv75182 | Remapped | Perfect | NC_000001.11:g.(?_ 8614420)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,614,420 | 8,625,106 |
essv39106 | Remapped | Perfect | NC_000001.11:g.(?_ 8614781)_(8625106_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,614,781 | 8,625,106 |
essv62367 | Remapped | Perfect | NC_000001.11:g.(?_ 8616621)_(8624304_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 8,616,621 | 8,624,304 |
essv41052 | Remapped | Perfect | NC_000001.10:g.(?_ 8670915)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,670,915 | 8,685,390 |
essv58369 | Remapped | Perfect | NC_000001.10:g.(?_ 8671618)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,671,618 | 8,685,390 |
essv73403 | Remapped | Perfect | NC_000001.10:g.(?_ 8671895)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,671,895 | 8,685,390 |
essv70430 | Remapped | Perfect | NC_000001.10:g.(?_ 8671895)_(8685483_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,671,895 | 8,685,483 |
essv57705 | Remapped | Perfect | NC_000001.10:g.(?_ 8671895)_(8685734_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,671,895 | 8,685,734 |
essv61132 | Remapped | Perfect | NC_000001.10:g.(?_ 8672704)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,672,704 | 8,685,390 |
essv44197 | Remapped | Perfect | NC_000001.10:g.(?_ 8672770)_(8687174_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,672,770 | 8,687,174 |
essv49938 | Remapped | Perfect | NC_000001.10:g.(?_ 8672900)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,672,900 | 8,685,165 |
essv52643 | Remapped | Perfect | NC_000001.10:g.(?_ 8672955)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,672,955 | 8,685,165 |
essv46463 | Remapped | Perfect | NC_000001.10:g.(?_ 8673057)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,673,057 | 8,685,165 |
essv76599 | Remapped | Perfect | NC_000001.10:g.(?_ 8673057)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,673,057 | 8,685,165 |
essv59644 | Remapped | Perfect | NC_000001.10:g.(?_ 8673246)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,673,246 | 8,685,390 |
essv53905 | Remapped | Perfect | NC_000001.10:g.(?_ 8673310)_(8685500_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,673,310 | 8,685,500 |
essv76155 | Remapped | Perfect | NC_000001.10:g.(?_ 8674336)_(8685390_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,674,336 | 8,685,390 |
essv75182 | Remapped | Perfect | NC_000001.10:g.(?_ 8674479)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,674,479 | 8,685,165 |
essv39106 | Remapped | Perfect | NC_000001.10:g.(?_ 8674840)_(8685165_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,674,840 | 8,685,165 |
essv62367 | Remapped | Perfect | NC_000001.10:g.(?_ 8676680)_(8684363_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 8,676,680 | 8,684,363 |
essv41052 | Submitted genomic | NC_000001.9:g.(?_8 593502)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,593,502 | 8,607,977 | ||
essv58369 | Submitted genomic | NC_000001.9:g.(?_8 594205)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,594,205 | 8,607,977 | ||
essv73403 | Submitted genomic | NC_000001.9:g.(?_8 594482)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,594,482 | 8,607,977 | ||
essv70430 | Submitted genomic | NC_000001.9:g.(?_8 594482)_(8608070_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,594,482 | 8,608,070 | ||
essv57705 | Submitted genomic | NC_000001.9:g.(?_8 594482)_(8608321_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,594,482 | 8,608,321 | ||
essv61132 | Submitted genomic | NC_000001.9:g.(?_8 595291)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,291 | 8,607,977 | ||
essv44197 | Submitted genomic | NC_000001.9:g.(?_8 595357)_(8609761_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,357 | 8,609,761 | ||
essv49938 | Submitted genomic | NC_000001.9:g.(?_8 595487)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,487 | 8,607,752 | ||
essv52643 | Submitted genomic | NC_000001.9:g.(?_8 595542)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,542 | 8,607,752 | ||
essv46463 | Submitted genomic | NC_000001.9:g.(?_8 595644)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,644 | 8,607,752 | ||
essv76599 | Submitted genomic | NC_000001.9:g.(?_8 595644)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,644 | 8,607,752 | ||
essv59644 | Submitted genomic | NC_000001.9:g.(?_8 595833)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,833 | 8,607,977 | ||
essv53905 | Submitted genomic | NC_000001.9:g.(?_8 595897)_(8608087_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,595,897 | 8,608,087 | ||
essv76155 | Submitted genomic | NC_000001.9:g.(?_8 596923)_(8607977_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,596,923 | 8,607,977 | ||
essv75182 | Submitted genomic | NC_000001.9:g.(?_8 597066)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,597,066 | 8,607,752 | ||
essv39106 | Submitted genomic | NC_000001.9:g.(?_8 597427)_(8607752_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,597,427 | 8,607,752 | ||
essv62367 | Submitted genomic | NC_000001.9:g.(?_8 599267)_(8606950_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 8,599,267 | 8,606,950 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv57705 | 2 | NA11993 | Oligo aCGH | Probe signal intensity | Pass |
essv75182 | 2 | NA12004 | Oligo aCGH | Probe signal intensity | Pass |
essv52643 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
essv73403 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
essv61132 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
essv39106 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
essv76155 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |
essv44197 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
essv41052 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
essv62367 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
essv53905 | 2 | NA18508 | Oligo aCGH | Probe signal intensity | Pass |
essv76599 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
essv49938 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
essv59644 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
essv70430 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
essv58369 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
essv46463 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |