A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726853



Internal ID9961161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2511274..2511599hg38UCSC Ensembl
Outerchr4:2513001..2513326hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6667244, essv6764633, essv6955963, essv6934071, essv6767063, essv6882919, essv6754063, essv6739448, essv6938404, essv6821854, essv6748311, essv6926305, essv6745473, essv6913151, essv6781633, essv6736527, essv6751152, essv6755098, essv6829657
SamplesSSM008, SSM064, SSM050, SSM057, SSM058, SSM021, SSM019, SSM001, SSM068, SSM081, SSM022, SSM010, SSM055, SSM004, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesRNF4
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)esv2726853
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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