A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789457



Internal ID18832123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6531072..6608999hg38UCSC Ensembl
Innerchr5:6531185..6609112hg19UCSC Ensembl
Innerchr5:6584185..6662112hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3877928
hg1977928
hg1877928
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894117
Supporting Variants
Samples
Known GenesLINC01018, NSUN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789457
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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