A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736774



Internal ID9971106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25216764..25216993hg38UCSC Ensembl
Outerchr8:25074280..25074509hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975921, essv6672062, essv6931133
SamplesSSM031, SSM020, SSM029
Known GenesDOCK5
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)esv2736774
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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