A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722938



Internal ID10306574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63559438..63559606hg38UCSC Ensembl
Outerchr20:62190791..62190959hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892028, essv6725444, essv6960888, essv6696592, essv6824572, essv6784578, essv6693565, essv6780422, essv6909737, essv6776612, essv6703469
SamplesSSM045, SSM079, SSM097, SSM039, SSM026, SSM067, SSM014, SSM066, SSM068, SSM005, SSM037
Known GenesHELZ2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2722938
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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