A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672689



Internal ID9744053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496850..71496915hg38UCSC Ensembl
Outerchr10:73256607..73256672hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738295, esv2738284, esv2738317, esv2738306
Supporting Variants
SamplesSSM031
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)essv6672689
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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