A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714710



Internal ID9948994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75482503..75532390hg38UCSC Ensembl
Outerchr16:75516401..75566288hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3849888
hg1949888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820346, essv6928425
SamplesSSM019, SSM078
Known GenesCHST5, CHST6
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)esv2714710
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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