A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696594



Internal ID9763348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63770784..63771234hg38UCSC Ensembl
Outerchr20:62402137..62402587hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722970, esv2722959
Supporting Variants
SamplesSSM037
Known GenesZBTB46
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)essv6696594
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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