A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421345



Internal ID8251793
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5048106, essv5046575, essv5022088, essv5066800, essv5012814, essv5004662, essv5061064, essv5016171, essv5020026, essv5047221, essv5007756, essv5006279, essv5097487, essv5042318, essv5108281, essv5138911, essv5093244, essv5130758, essv5044744, essv5028858, essv5100430, essv5050752, essv5131132, essv5069718, essv5038025, essv5121340
SamplesNA19122, NA20287, NA21391, NA19404, NA19123, NA19215, NA19235, NA19385, NA20343, NA20342, NA21417, NA19210, NA21596, NA19103, NA19097, NA21578, NA19101, NA19095, NA19440, NA21425, NA19324, NA19467, NA19360, NA19211, NA18500, NA19213
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)esv2421345
Frequency
Sample Size1184
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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