A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738775



Internal ID10322411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:92872157..92872525hg38UCSC Ensembl
Outerchr9:95634439..95634807hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967718, essv6944404, essv6757922
SamplesSSM059, SSM023, SSM004
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)esv2738775
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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