A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689013



Internal ID9755542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723511..63723633hg38UCSC Ensembl
Outerchr20:62354863..62354985hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722961, esv2722964, esv2722959, esv2722960
Supporting Variants
SamplesSSM035
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)essv6689013
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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