A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792787



Internal ID18830544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18918507..19038056hg38UCSC Ensembl
Innerchr16:18929829..19049378hg19UCSC Ensembl
Innerchr16:18837330..18956879hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38119550
hg19119550
hg18119550
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892806
Supporting Variants
Samples
Known GenesSMG1, TMC7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792787
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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