A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714099



Internal ID9948383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23981475..23982052hg38UCSC Ensembl
Outerchr16:23992796..23993373hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949592, essv6665481, essv6842945, essv6713420
SamplesSSM084, SSM042, SSM024, SSM029
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)esv2714099
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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