A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894022



Internal ID18838190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:122865924..123123191hg38UCSC Ensembl
Outerchr4:122865924..123123191hg38UCSC Ensembl
Innerchr4:123787079..124044346hg19UCSC Ensembl
Outerchr4:123787079..124044346hg19UCSC Ensembl
Innerchr4:124006529..124263796hg18UCSC Ensembl
Outerchr4:124006529..124263796hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38257268
hg19257268
hg18257268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791650
Samples
Known GenesFGF2, NUDT6, SPATA5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894022
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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