A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791650



Internal ID18834163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:122865924..123123191hg38UCSC Ensembl
Innerchr4:123787079..124044346hg19UCSC Ensembl
Innerchr4:124006529..124263796hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38257268
hg19257268
hg18257268
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894022
Supporting Variants
Samples
Known GenesFGF2, NUDT6, SPATA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791650
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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