A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714101



Internal ID9948385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24048781..24049905hg38UCSC Ensembl
Outerchr16:24060102..24061226hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877062, essv6936674, essv6738239, essv6699080, essv6909352, essv6735502, essv6755946, essv6714043, essv6744363, essv6752922, essv6758561, essv6971347, essv6766053, essv6901777, essv6838265, essv6916564, essv6960122
SamplesSSM010, SSM092, SSM053, SSM006, SSM016, SSM057, SSM050, SSM012, SSM028, SSM021, SSM063, SSM038, SSM026, SSM014, SSM049, SSM058, SSM059
Known GenesPRKCB
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)esv2714101
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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