A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730592



Internal ID10314228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111359229..111359698hg38UCSC Ensembl
Outerchr5:110694927..110695396hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963405, essv6824488, essv6759866, essv6667440, essv6764867, essv6886464, essv6817977, essv6762494, essv6742982, essv6754356, essv6745791, essv6751433, essv6934501, essv6969175, essv6758721, essv6793288, essv6974443
SamplesSSM008, SSM027, SSM009, SSM057, SSM058, SSM028, SSM021, SSM061, SSM029, SSM062, SSM078, SSM053, SSM010, SSM055, SSM030, SSM063, SSM012
Known GenesCAMK4
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)esv2730592
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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