A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892883



Internal ID18837017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70513090..70660097hg38UCSC Ensembl
Outerchr16:70513090..70660097hg38UCSC Ensembl
Innerchr16:70546993..70694000hg19UCSC Ensembl
Outerchr16:70546993..70694000hg19UCSC Ensembl
Innerchr16:69104494..69251501hg18UCSC Ensembl
Outerchr16:69104494..69251501hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38147008
hg19147008
hg18147008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792934
Samples
Known GenesCOG4, IL34, SF3B3, SNORD111, SNORD111B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892883
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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