A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890773



Internal ID18838389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179534709..179593621hg38UCSC Ensembl
Outerchr5:179534709..179598549hg38UCSC Ensembl
Innerchr5:178961710..179020622hg19UCSC Ensembl
Outerchr5:178961710..179025550hg19UCSC Ensembl
Innerchr5:178894316..178953228hg18UCSC Ensembl
Outerchr5:178894316..178958156hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863841
hg1963841
hg1863841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788705, essv25791949
Samples
Known GenesRUFY1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890773
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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