A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788729



Internal ID18818005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70379334..70791080hg38UCSC Ensembl
Innerchr16:70413237..70824983hg19UCSC Ensembl
Innerchr16:68970738..69382484hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38411747
hg19411747
hg18411747
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892881
Supporting Variants
Samples
Known GenesCOG4, FUK, IL34, MTSS1L, SF3B3, SNORD111, SNORD111B, ST3GAL2, VAC14, VAC14-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=59
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788729
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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