A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746500



Internal ID9980784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122696739..122711304hg38UCSC Ensembl
Outerchr12:123181286..123195851hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814566
hg1914566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806432, essv6711587, essv6761044, essv6763452, essv6772114, essv6857323
SamplesSSM065, SSM006, SSM061, SSM062, SSM009, SSM087
Known GenesHCAR2
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)esv2746500
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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