A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722123



Internal ID9956422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:3898160..3904528hg38UCSC Ensembl
Outerchr20:3878807..3885175hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386369
hg196369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828568
SamplesSSM080
Known GenesPANK2
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)esv2722123
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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