A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882999



Internal ID9931495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731316..63731743hg38UCSC Ensembl
Outerchr20:62362668..62363095hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722965, esv2722959
Supporting Variants
SamplesSSM094
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)essv6882999
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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