A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715166



Internal ID9949452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89517061..89517609hg38UCSC Ensembl
Outerchr16:89583469..89584017hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916715
SamplesSSM016
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)esv2715166
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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