A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720123



Internal ID9954419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60467195..60467722hg38UCSC Ensembl
Outerchr2:60694330..60694857hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6821490, essv6946808, essv6669481, essv6914244, essv6781219, essv6933650
SamplesSSM024, SSM079, SSM021, SSM031, SSM068, SSM016
Known GenesBCL11A
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)esv2720123
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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