A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740858



Internal ID9975201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89587594..89588459hg38UCSC Ensembl
Outerchr16:89654002..89654867hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv386e201
Supporting Variantsessv6682164
SamplesSSM033
Known GenesCPNE7
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)esv2740858
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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