A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737919



Internal ID10321555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142678288..142679281hg38UCSC Ensembl
Outerchr8:143759706..143760699hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6791282, essv6677275, essv6944300, essv6667946, essv6970179, essv6672255, essv6799645, essv6967041, essv6787180, essv6709052, essv6767242, essv6740604, essv6923746, essv6701866, essv6935516, essv6873308, essv6734365, essv6861728, essv6691136, essv6958300
SamplesSSM036, SSM008, SSM039, SSM088, SSM041, SSM023, SSM028, SSM021, SSM018, SSM069, SSM026, SSM032, SSM031, SSM072, SSM007, SSM091, SSM070, SSM004, SSM052, SSM030
Known GenesPSCA
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)esv2737919
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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