A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890751



Internal ID18838367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149851956..149886716hg38UCSC Ensembl
Outerchr5:149851956..149886716hg38UCSC Ensembl
Innerchr5:149231519..149266279hg19UCSC Ensembl
Outerchr5:149231519..149266279hg19UCSC Ensembl
Innerchr5:149211712..149246472hg18UCSC Ensembl
Outerchr5:149211712..149246472hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3834761
hg1934761
hg1834761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787971
Samples
Known GenesPDE6A, PPARGC1B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890751
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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