A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715067



Internal ID9949352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88874922..88875370hg38UCSC Ensembl
Outerchr16:88941330..88941778hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803930
SamplesSSM073
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)esv2715067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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