A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161406



Internal ID8252744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18657028..19204716hg38UCSC Ensembl
Innerchr5:18657137..19204825hg19UCSC Ensembl
Innerchr5:18692894..19240582hg18UCSC Ensembl
Innerchr5:18692894..19240582hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38547689
hg19547689
hg18547689
hg17547689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422186
Supporting Variants
SamplesND01705
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161406
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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