A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585869



Internal ID762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13034401..13034747hg38UCSC Ensembl
Outerchr16:13032614..13036417hg38UCSC Ensembl
Innerchr16:13128258..13128604hg19UCSC Ensembl
Outerchr16:13126471..13130274hg19UCSC Ensembl
Innerchr16:13035759..13036105hg18UCSC Ensembl
Outerchr16:13033972..13037775hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg383804
hg193804
hg183804
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275394
Supporting Variants
Samples
Known GenesSHISA9
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585869
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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