A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667677



Internal ID9933782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33653671..33654762hg38UCSC Ensembl
chr20:32241477..32242568hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6145943, essv6112339, essv6295211, essv6464768, essv6336912, essv5945553, essv6044988, essv5674820, essv5550632, essv6031465, essv6529172, essv5832244, essv6012326
SamplesHG00592, HG00337, HG00271, HG00272, NA19007, HG00188, NA18626, NA19059, NA18536, NA19685, NA18987, HG00377, NA19661
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667677
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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