A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736798



Internal ID9971130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27664530..27665148hg38UCSC Ensembl
Outerchr8:27522047..27522665hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841834, essv6966262, essv6672065
SamplesSSM084, SSM031, SSM004
Known GenesSCARA3
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)esv2736798
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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