A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737921



Internal ID10321557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142678485..142678981hg38UCSC Ensembl
Outerchr8:143759903..143760399hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1235e201
Supporting Variantsessv6791282, essv6677275, essv6944300, essv6672255, essv6799645, essv6967041, essv6787180, essv6709052, essv6923746, essv6701866, essv6935516, essv6734365, essv6691136
SamplesSSM036, SSM039, SSM041, SSM023, SSM021, SSM018, SSM069, SSM032, SSM031, SSM072, SSM007, SSM070, SSM004
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)esv2737921
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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