A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954271



Internal ID10058642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63028761..63029441hg38UCSC Ensembl
Outerchr20:61660113..61660793hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722864
Supporting Variants
SamplesSSM025
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)essv6954271
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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