A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665482



Internal ID9730471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24124824..24125391hg38UCSC Ensembl
Outerchr16:24136145..24136712hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714108
Supporting Variants
SamplesSSM029
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)essv6665482
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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