A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819356



Internal ID9872340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496264..71497143hg38UCSC Ensembl
Outerchr10:73256021..73256900hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738284
Supporting Variants
SamplesSSM078
Known GenesCDH23
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)essv6819356
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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