A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768278



Internal ID9827701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496631..71497141hg38UCSC Ensembl
Outerchr10:73256388..73256898hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738295, esv2738284, esv2738306
Supporting Variants
SamplesSSM064
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)essv6768278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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