A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722865



Internal ID10306501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63028920..63029241hg38UCSC Ensembl
Outerchr20:61660272..61660593hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928734, essv6689007, essv6776606, essv6792859, essv6678776
SamplesSSM019, SSM035, SSM032, SSM066, SSM070
Known GenesLOC63930
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)esv2722865
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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