A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789383



Internal ID18818333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:511960..706589hg38UCSC Ensembl
Innerchr18:511960..706589hg19UCSC Ensembl
Innerchr18:501960..696589hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38194630
hg19194630
hg18194630
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893055
Supporting Variants
Samples
Known GenesC18orf56, CETN1, CLUL1, ENOSF1, TYMS
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789383
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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