A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892806



Internal ID18836940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18918507..19038056hg38UCSC Ensembl
Outerchr16:18918507..19038056hg38UCSC Ensembl
Innerchr16:18929829..19049378hg19UCSC Ensembl
Outerchr16:18929829..19049378hg19UCSC Ensembl
Innerchr16:18837330..18956879hg18UCSC Ensembl
Outerchr16:18837330..18956879hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38119550
hg19119550
hg18119550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792787
Samples
Known GenesSMG1, TMC7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892806
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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