A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789568



Internal ID18818309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21563897..21736369hg38UCSC Ensembl
Innerchr16:21575218..21747690hg19UCSC Ensembl
Innerchr16:21482719..21655191hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38172473
hg19172473
hg18172473
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892812
Supporting Variants
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789568
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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