A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787971



Internal ID18829258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149851956..149886716hg38UCSC Ensembl
Innerchr5:149231519..149266279hg19UCSC Ensembl
Innerchr5:149211712..149246472hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3834761
hg1934761
hg1834761
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890751
Supporting Variants
Samples
Known GenesPDE6A, PPARGC1B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787971
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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