A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788705



Internal ID18827377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179534709..179598549hg38UCSC Ensembl
Innerchr5:178961710..179025550hg19UCSC Ensembl
Innerchr5:178894316..178958156hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863841
hg1963841
hg1863841
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890773
Supporting Variants
Samples
Known GenesRUFY1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788705
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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