A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892881



Internal ID18837015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70379334..70791080hg38UCSC Ensembl
Outerchr16:70379334..70791080hg38UCSC Ensembl
Innerchr16:70413237..70824983hg19UCSC Ensembl
Outerchr16:70413237..70824983hg19UCSC Ensembl
Innerchr16:68970738..69382484hg18UCSC Ensembl
Outerchr16:68970738..69382484hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38411747
hg19411747
hg18411747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788729
Samples
Known GenesCOG4, FUK, IL34, MTSS1L, SF3B3, SNORD111, SNORD111B, ST3GAL2, VAC14, VAC14-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892881
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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