A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667806



Internal ID9933911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62992192..62993889hg38UCSC Ensembl
chr20:61623544..61625241hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6426935, essv6322910, essv6231027, essv6034322, essv5790957, essv5703521, essv5408495, essv5866861, essv5551206, essv5520288, essv6280568, essv5615659, essv6407523, essv5644608, essv6590297, essv5870509, essv6569733, essv5819175, essv5891253, essv5719780, essv5601293, essv6267563, essv5697353, essv6554786, essv5403906, essv5458883, essv6269817, essv6464320, essv5841884, essv5566676, essv6241303, essv5826185, essv6591544, essv6038149, essv5526681, essv6573954, essv5481545, essv5713867, essv6304776, essv5504345, essv5581698, essv6037083, essv6589508, essv6501303, essv6500389, essv5727573, essv6525705, essv6197457
SamplesNA12717, HG00142, NA11995, NA18486, NA18504, NA19920, NA12813, NA18967, NA07346, NA19171, NA20796, NA18519, NA11992, NA11918, NA19138, NA11930, NA12275, HG01495, NA19238, NA19172, NA18520, HG01133, HG00739, NA19908, NA19152, NA19236, NA18516, NA20519, NA18910, NA18981, NA20538, NA12892, HG00157, NA19225, NA18523, NA20534, NA18953, HG00155, NA18961, NA20790, NA12763, HG01489, HG01055, NA19093, NA19116, NA19463, NA18522, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667806
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer