esv2663949
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:47
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,939
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 377 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 377 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2663949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
esv2663949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5418438 | deletion | SAMN00009094 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
essv5444542 | deletion | SAMN00006596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,607 |
essv5458187 | deletion | SAMN00009163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
essv5465606 | deletion | SAMN00004640 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,063 |
essv5476098 | deletion | SAMN00006583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,292 |
essv5510828 | deletion | SAMN00001253 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 912 |
essv5540535 | deletion | SAMN00001324 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 861 |
essv5553221 | deletion | SAMN00001265 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 933 |
essv5612527 | deletion | SAMN00009175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
essv5649949 | deletion | SAMN00014317 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,665 |
essv5691109 | deletion | SAMN00006598 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,574 |
essv5710881 | deletion | SAMN00014326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,595 |
essv5727447 | deletion | SAMN00007729 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,132 |
essv5753489 | deletion | SAMN00004668 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,117 |
essv5784933 | deletion | SAMN00006416 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
essv5799731 | deletion | SAMN00006537 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,102 |
essv5819306 | deletion | SAMN00009174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,638 |
essv5840791 | deletion | SAMN00007732 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
essv5890967 | deletion | SAMN00006579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,224 |
essv5912514 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
essv5938805 | deletion | SAMN00001243 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 823 |
essv5945129 | deletion | SAMN00001335 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 911 |
essv5959265 | deletion | SAMN00009159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,606 |
essv5977522 | deletion | SAMN00007738 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,656 |
essv5995792 | deletion | SAMN00001187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
essv6008592 | deletion | SAMN00001226 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 788 |
essv6042274 | deletion | SAMN00001289 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
essv6109180 | deletion | SAMN00001235 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 869 |
essv6161280 | deletion | SAMN00009154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,617 |
essv6165642 | deletion | SAMN00006342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,300 |
essv6172895 | deletion | SAMN00009190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,097 |
essv6183232 | deletion | SAMN00801912 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
essv6266516 | deletion | SAMN00009136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,371 |
essv6279283 | deletion | SAMN00016979 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 937 |
essv6403614 | deletion | SAMN00009126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,897 |
essv6439324 | deletion | SAMN00009189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
essv6445865 | deletion | SAMN00014395 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 812 |
essv6481775 | deletion | SAMN00007701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
essv6509804 | deletion | SAMN00004664 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,019 |
essv6514633 | deletion | SAMN00001275 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 849 |
essv6515327 | deletion | SAMN00009123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,809 |
essv6518585 | deletion | SAMN00014321 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 793 |
essv6540445 | deletion | SAMN00801888 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 931 |
essv6547473 | deletion | SAMN00006423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,641 |
essv6553178 | deletion | SAMN00009153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,539 |
essv6587466 | deletion | SAMN00000397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 960 |
essv6596381 | deletion | SAMN00007714 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,155 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5418438 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5444542 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5458187 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5465606 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5476098 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5510828 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5540535 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5553221 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5612527 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5649949 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5691109 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5710881 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5727447 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5753489 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5784933 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5799731 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5819306 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5840791 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5890967 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5912514 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5938805 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5945129 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5959265 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5977522 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5995792 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6008592 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6042274 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6109180 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6161280 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6165642 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6172895 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6183232 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6266516 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6279283 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6403614 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6439324 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6445865 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6481775 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6509804 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6514633 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6515327 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6518585 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6540445 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6547473 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6553178 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6587466 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv6596381 | Remapped | Perfect | NC_000020.11:g.540 30525_54041463delC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,030,525 | 54,041,463 |
essv5418438 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5444542 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5458187 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5465606 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5476098 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5510828 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5540535 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5553221 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5612527 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5649949 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5691109 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5710881 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5727447 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5753489 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5784933 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5799731 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5819306 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5840791 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5890967 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5912514 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5938805 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5945129 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5959265 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5977522 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv5995792 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6008592 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6042274 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6109180 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6161280 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6165642 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6172895 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6183232 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6266516 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6279283 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6403614 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6439324 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6445865 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6481775 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6509804 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6514633 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6515327 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6518585 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6540445 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6547473 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6553178 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6587466 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 | ||
essv6596381 | Submitted genomic | NC_000020.10:g.526 47064_52658002delC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,647,064 | 52,658,002 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6587466 | 9 | SAMN00000397 | Oligo aCGH | Probe signal intensity | Pass |
essv5995792 | 9 | SAMN00001187 | Oligo aCGH | Probe signal intensity | Pass |
essv6008592 | 9 | SAMN00001226 | Oligo aCGH | Probe signal intensity | Pass |
essv6109180 | 9 | SAMN00001235 | Oligo aCGH | Probe signal intensity | Pass |
essv5938805 | 9 | SAMN00001243 | Oligo aCGH | Probe signal intensity | Pass |
essv5510828 | 9 | SAMN00001253 | Oligo aCGH | Probe signal intensity | Pass |
essv5553221 | 9 | SAMN00001265 | Oligo aCGH | Probe signal intensity | Pass |
essv6514633 | 9 | SAMN00001275 | Oligo aCGH | Probe signal intensity | Pass |
essv6042274 | 9 | SAMN00001289 | Oligo aCGH | Probe signal intensity | Pass |
essv5540535 | 9 | SAMN00001324 | Oligo aCGH | Probe signal intensity | Pass |
essv5945129 | 9 | SAMN00001335 | Oligo aCGH | Probe signal intensity | Pass |
essv5465606 | 9 | SAMN00004640 | Oligo aCGH | Probe signal intensity | Pass |
essv6509804 | 9 | SAMN00004664 | Oligo aCGH | Probe signal intensity | Pass |
essv5753489 | 9 | SAMN00004668 | Oligo aCGH | Probe signal intensity | Pass |
essv6165642 | 9 | SAMN00006342 | Oligo aCGH | Probe signal intensity | Pass |
essv5784933 | 9 | SAMN00006416 | Oligo aCGH | Probe signal intensity | Pass |
essv6547473 | 9 | SAMN00006423 | Oligo aCGH | Probe signal intensity | Pass |
essv5799731 | 9 | SAMN00006537 | Oligo aCGH | Probe signal intensity | Pass |
essv5890967 | 9 | SAMN00006579 | Oligo aCGH | Probe signal intensity | Pass |
essv5476098 | 9 | SAMN00006583 | Oligo aCGH | Probe signal intensity | Pass |
essv5444542 | 9 | SAMN00006596 | Oligo aCGH | Probe signal intensity | Pass |
essv5691109 | 9 | SAMN00006598 | Oligo aCGH | Probe signal intensity | Pass |
essv6481775 | 9 | SAMN00007701 | Oligo aCGH | Probe signal intensity | Pass |
essv6596381 | 9 | SAMN00007714 | Oligo aCGH | Probe signal intensity | Pass |
essv5727447 | 9 | SAMN00007729 | Oligo aCGH | Probe signal intensity | Pass |
essv5840791 | 9 | SAMN00007732 | Oligo aCGH | Probe signal intensity | Pass |
essv5977522 | 9 | SAMN00007738 | Oligo aCGH | Probe signal intensity | Pass |
essv5912514 | 9 | SAMN00007803 | Oligo aCGH | Probe signal intensity | Pass |
essv5418438 | 9 | SAMN00009094 | Oligo aCGH | Probe signal intensity | Pass |
essv6515327 | 9 | SAMN00009123 | Oligo aCGH | Probe signal intensity | Pass |
essv6403614 | 9 | SAMN00009126 | Oligo aCGH | Probe signal intensity | Pass |
essv6266516 | 9 | SAMN00009136 | Oligo aCGH | Probe signal intensity | Pass |
essv6553178 | 9 | SAMN00009153 | Oligo aCGH | Probe signal intensity | Pass |
essv6161280 | 9 | SAMN00009154 | Oligo aCGH | Probe signal intensity | Pass |
essv5959265 | 9 | SAMN00009159 | Oligo aCGH | Probe signal intensity | Pass |
essv5458187 | 9 | SAMN00009163 | Oligo aCGH | Probe signal intensity | Pass |
essv5819306 | 9 | SAMN00009174 | Oligo aCGH | Probe signal intensity | Pass |
essv5612527 | 9 | SAMN00009175 | Oligo aCGH | Probe signal intensity | Pass |
essv6439324 | 9 | SAMN00009189 | Oligo aCGH | Probe signal intensity | Pass |
essv6172895 | 9 | SAMN00009190 | Oligo aCGH | Probe signal intensity | Pass |
essv5649949 | 9 | SAMN00014317 | Oligo aCGH | Probe signal intensity | Pass |
essv6518585 | 9 | SAMN00014321 | Oligo aCGH | Probe signal intensity | Pass |
essv5710881 | 9 | SAMN00014326 | Oligo aCGH | Probe signal intensity | Pass |
essv6445865 | 9 | SAMN00014395 | Oligo aCGH | Probe signal intensity | Pass |
essv6279283 | 9 | SAMN00016979 | Oligo aCGH | Probe signal intensity | Pass |
essv6540445 | 9 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |
essv6183232 | 9 | SAMN00801912 | Oligo aCGH | Probe signal intensity | Pass |
essv6587466 | 7 | SAMN00000397 | SNP array | Probe signal intensity | Pass |
essv5995792 | 7 | SAMN00001187 | SNP array | Probe signal intensity | Pass |
essv6008592 | 7 | SAMN00001226 | SNP array | Probe signal intensity | Pass |
essv6109180 | 7 | SAMN00001235 | SNP array | Probe signal intensity | Pass |
essv5938805 | 7 | SAMN00001243 | SNP array | Probe signal intensity | Pass |
essv5510828 | 7 | SAMN00001253 | SNP array | Probe signal intensity | Pass |
essv5553221 | 7 | SAMN00001265 | SNP array | Probe signal intensity | Pass |
essv6514633 | 7 | SAMN00001275 | SNP array | Probe signal intensity | Pass |
essv6042274 | 7 | SAMN00001289 | SNP array | Probe signal intensity | Pass |
essv5540535 | 7 | SAMN00001324 | SNP array | Probe signal intensity | Pass |
essv5945129 | 7 | SAMN00001335 | SNP array | Probe signal intensity | Pass |
essv5465606 | 7 | SAMN00004640 | SNP array | Probe signal intensity | Pass |
essv6509804 | 7 | SAMN00004664 | SNP array | Probe signal intensity | Pass |
essv5753489 | 7 | SAMN00004668 | SNP array | Probe signal intensity | Pass |
essv6165642 | 7 | SAMN00006342 | SNP array | Probe signal intensity | Pass |
essv5784933 | 7 | SAMN00006416 | SNP array | Probe signal intensity | Pass |
essv6547473 | 7 | SAMN00006423 | SNP array | Probe signal intensity | Pass |
essv5799731 | 7 | SAMN00006537 | SNP array | Probe signal intensity | Pass |
essv5890967 | 7 | SAMN00006579 | SNP array | Probe signal intensity | Pass |
essv5476098 | 7 | SAMN00006583 | SNP array | Probe signal intensity | Pass |
essv5444542 | 7 | SAMN00006596 | SNP array | Probe signal intensity | Pass |
essv5691109 | 7 | SAMN00006598 | SNP array | Probe signal intensity | Pass |
essv6481775 | 7 | SAMN00007701 | SNP array | Probe signal intensity | Pass |
essv6596381 | 7 | SAMN00007714 | SNP array | Probe signal intensity | Pass |
essv5727447 | 7 | SAMN00007729 | SNP array | Probe signal intensity | Pass |
essv5840791 | 7 | SAMN00007732 | SNP array | Probe signal intensity | Pass |
essv5977522 | 7 | SAMN00007738 | SNP array | Probe signal intensity | Pass |
essv5912514 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
essv5418438 | 7 | SAMN00009094 | SNP array | Probe signal intensity | Pass |
essv6515327 | 7 | SAMN00009123 | SNP array | Probe signal intensity | Pass |
essv6403614 | 7 | SAMN00009126 | SNP array | Probe signal intensity | Pass |
essv6266516 | 7 | SAMN00009136 | SNP array | Probe signal intensity | Pass |
essv6553178 | 7 | SAMN00009153 | SNP array | Probe signal intensity | Pass |
essv6161280 | 7 | SAMN00009154 | SNP array | Probe signal intensity | Pass |
essv5959265 | 7 | SAMN00009159 | SNP array | Probe signal intensity | Pass |
essv5458187 | 7 | SAMN00009163 | SNP array | Probe signal intensity | Pass |
essv5819306 | 7 | SAMN00009174 | SNP array | Probe signal intensity | Pass |
essv5612527 | 7 | SAMN00009175 | SNP array | Probe signal intensity | Pass |
essv6439324 | 7 | SAMN00009189 | SNP array | Probe signal intensity | Pass |
essv6172895 | 7 | SAMN00009190 | SNP array | Probe signal intensity | Pass |
essv5649949 | 7 | SAMN00014317 | SNP array | Probe signal intensity | Pass |
essv6518585 | 7 | SAMN00014321 | SNP array | Probe signal intensity | Pass |
essv5710881 | 7 | SAMN00014326 | SNP array | Probe signal intensity | Pass |
essv6445865 | 7 | SAMN00014395 | SNP array | Probe signal intensity | Pass |
essv6279283 | 7 | SAMN00016979 | SNP array | Probe signal intensity | Pass |
essv6540445 | 7 | SAMN00801888 | SNP array | Probe signal intensity | Pass |
essv6183232 | 7 | SAMN00801912 | SNP array | Probe signal intensity | Pass |