A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747188



Internal ID9807710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13200583..13202615hg38UCSC Ensembl
Outerchr16:13294440..13296472hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382033
hg192033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713995
Supporting Variants
SamplesSSM055
Known GenesSHISA9
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)essv6747188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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