A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894185



Internal ID19185254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45759063..46160685hg38UCSC Ensembl
Outerchr5:45387752..46378855hg38UCSC Ensembl
Innerchr5:45759165..46160787hg19UCSC Ensembl
Outerchr5:45387854..46378957hg19UCSC Ensembl
Innerchr5:45794922..46196544hg18UCSC Ensembl
Outerchr5:45423611..46414714hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38991104
hg19991104
hg18991104
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789960, essv25788110, essv25792550, essv25789898
Samples
Known GenesHCN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894185
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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