A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792550



Internal ID19167629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45387752..46160685hg38UCSC Ensembl
Innerchr5:45387854..46160787hg19UCSC Ensembl
Innerchr5:45423611..46196544hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38772934
hg19772934
hg18772934
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894185
Supporting Variants
Samples
Known GenesHCN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=70
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792550
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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