A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788304



Internal ID18813739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100324445..101099725hg38UCSC Ensembl
Innerchr5:99660149..100435429hg19UCSC Ensembl
Innerchr5:99688048..100463328hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38775281
hg19775281
hg18775281
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890678
Supporting Variants
Samples
Known GenesFAM174A, LOC100133050, ST8SIA4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=67
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788304
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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