A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738955



Internal ID9973296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113453530..113453746hg38UCSC Ensembl
Outerchr9:116215810..116216026hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967941
SamplesSSM004
Known GenesRGS3
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)esv2738955
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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