A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5130758



Internal ID8245733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15882156..15931806hg38UCSC Ensembl
Innerchr16:15976013..16025663hg19UCSC Ensembl
Innerchr16:15883514..15933164hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3849651
hg1949651
hg1849651
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421345
Supporting Variants
SamplesNA21596
Known GenesFOPNL
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5130758
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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