A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737698



Internal ID10321334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:138813405..138813952hg38UCSC Ensembl
Outerchr8:139825648..139826195hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935489, essv6976103, essv6970159, essv6881942, essv6827133, essv6908317, essv6672224, essv6723942
SamplesSSM045, SSM028, SSM021, SSM029, SSM094, SSM031, SSM014, SSM080
Known GenesCOL22A1
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)esv2737698
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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