A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958468



Internal ID10066993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:95503735..95504046hg38UCSC Ensembl
Outerchr9:98266017..98266328hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738802
Supporting Variants
SamplesSSM026
Known GenesPTCH1
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)essv6958468
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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