A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720077



Internal ID9954373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53868443..53868591hg38UCSC Ensembl
Outerchr2:54095580..54095728hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683089
SamplesSSM034
Known GenesPSME4
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)esv2720077
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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