A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421534



Internal ID8251982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107782355..107800875hg38UCSC Ensembl
Innerchr11:107653081..107671601hg19UCSC Ensembl
Innerchr11:107158291..107176811hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3818521
hg1918521
hg1818521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5070497, essv5098644, essv5015217, essv5129495, essv5107933, essv5155658, essv5153433, essv5059998, essv5088865, essv5004033, essv5138787, essv5068836, essv5113629, essv5031560, essv5027635, essv5157342, essv5116553
SamplesNA20891, NA20802, NA18603, NA11891, NA20795, NA12287, NA20127, NA12760, NA12752, NA20787, NA06997, NA10840, NA06986, NA20887, NA20128, NA20907, NA10865
Known GenesSLC35F2
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)esv2421534
Frequency
Sample Size1184
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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