A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714100



Internal ID9948384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23981728..23981937hg38UCSC Ensembl
Outerchr16:23993049..23993258hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949592, essv6713420
SamplesSSM042, SSM024
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)esv2714100
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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