A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422014



Internal ID8252463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45192090..45212589hg38UCSC Ensembl
Innerchr5:45192192..45212691hg19UCSC Ensembl
Innerchr5:45227949..45248448hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3820500
hg1920500
hg1820500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5035352, essv5079810, essv5156943, essv5137318, essv5040861, essv5082438, essv5154323, essv5074798, essv5009982, essv5064435, essv5082148, essv5057322, essv5061077, essv5099355
SamplesNA19332, NA21741, NA20349, NA21716, NA19189, NA21451, NA21307, NA21438, NA20344, NA21576, NA21616, NA21582, NA20345, NA19429
Known Genes
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)esv2422014
Frequency
Sample Size1184
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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