A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723356



Internal ID10306992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33577446..33577934hg38UCSC Ensembl
Outerchr21:34949752..34950240hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921619, essv6784871, essv6703748, essv6925592, essv6692658
SamplesSSM036, SSM039, SSM018, SSM017, SSM068
Known GenesDONSON, SON
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)esv2723356
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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