A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967718



Internal ID9991933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:92872200..92872445hg38UCSC Ensembl
Outerchr9:95634482..95634727hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738775
Supporting Variants
SamplesSSM004
Known GenesZNF484
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)essv6967718
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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