A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737189



Internal ID10320825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:75225752..75226135hg38UCSC Ensembl
Outerchr8:76137987..76138370hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838048, essv6705671, essv6964778, essv6771466, essv6787117, essv6778854, essv6881893, essv6958175
SamplesSSM083, SSM027, SSM065, SSM069, SSM026, SSM094, SSM067, SSM040
Known GenesCASC9
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)esv2737189
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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