A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894117



Internal ID18838500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6531072..6608999hg38UCSC Ensembl
Outerchr5:6511201..6616164hg38UCSC Ensembl
Innerchr5:6531185..6609112hg19UCSC Ensembl
Outerchr5:6511314..6616277hg19UCSC Ensembl
Innerchr5:6584185..6662112hg18UCSC Ensembl
Outerchr5:6564314..6669277hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38104964
hg19104964
hg18104964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789457, essv25789851
Samples
Known GenesLINC01018, NSUN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894117
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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