A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888375



Internal ID9936511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23899573..23899873hg38UCSC Ensembl
Outerchr16:23910894..23911194hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714097, esv2714098
Supporting Variants
SamplesSSM096
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)essv6888375
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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