A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909739



Internal ID9671087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723517..63723600hg38UCSC Ensembl
Outerchr20:62354869..62354952hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722961, esv2722964, esv2722959, esv2722960
Supporting Variants
SamplesSSM014
Known GenesZGPAT
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)essv6909739
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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