A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715168



Internal ID9949454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89545349..89545788hg38UCSC Ensembl
Outerchr16:89611757..89612196hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800895, essv6858143
SamplesSSM072, SSM087
Known GenesSPG7
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)esv2715168
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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