A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791949



Internal ID18825477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179534709..179593621hg38UCSC Ensembl
Innerchr5:178961710..179020622hg19UCSC Ensembl
Innerchr5:178894316..178953228hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3858913
hg1958913
hg1858913
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=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791949
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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