A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724908



Internal ID9959210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11166753..11167183hg38UCSC Ensembl
Outerchr3:11208439..11208869hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711089, essv6821675, essv6951094, essv6886353, essv6847845, essv6798008, essv6777451, essv6859814, essv6785564, essv6667150, essv6833058, essv6836668, essv6739283, essv6903006, essv6718642, essv6813609, essv6781428, essv6968512, essv6914415, essv6933857, essv6689725, essv6864607, essv6789696, essv6825545, essv6829479, essv6955643, essv6889464, essv6722492, essv6878029, essv6922281, essv6926122, essv6698888, essv6962397, essv6669806
SamplesSSM036, SSM083, SSM027, SSM045, SSM079, SSM097, SSM013, SSM093, SSM042, SSM088, SSM028, SSM021, SSM018, SSM069, SSM096, SSM026, SSM089, SSM019, SSM031, SSM067, SSM044, SSM086, SSM006, SSM068, SSM081, SSM072, SSM082, SSM016, SSM080, SSM077, SSM070, SSM025, SSM052, SSM030
Known GenesHRH1
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)esv2724908
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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