A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715076



Internal ID9949361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88966913..88967364hg38UCSC Ensembl
Outerchr16:89033321..89033772hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960302, essv6800889
SamplesSSM072, SSM026
Known GenesCBFA2T3
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)esv2715076
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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