A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746356



Internal ID9980640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110659019..110659559hg38UCSC Ensembl
Outerchr12:111096824..111097364hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741124
SamplesSSM052
Known GenesHVCN1
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)esv2746356
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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