A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791346



Internal ID18823616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:27572120..27782257hg38UCSC Ensembl
Innerchr18:25152084..25362221hg19UCSC Ensembl
Innerchr18:23406082..23616219hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38210138
hg19210138
hg18210138
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893083
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=52
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791346
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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