A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715109



Internal ID3265605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89136669..89137116hg38UCSC Ensembl
Outerchr16:89203077..89203524hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966779
SamplesSSM027
Known GenesACSF3
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)esv2715109
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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