A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714106



Internal ID9948390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24115103..24115445hg38UCSC Ensembl
Outerchr16:24126424..24126766hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920731, essv6862996, essv6966582, essv6909353, essv6862998
SamplesSSM027, SSM088, SSM017, SSM014
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)esv2714106
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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