A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422075



Internal ID8252523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575348hg38UCSC Ensembl
Innerchr5:110906071..110911045hg19UCSC Ensembl
Innerchr5:110933970..110938944hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384976
hg194975
hg184975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5123234, essv5058878, essv5089654, essv5094128, essv5081163, essv5127820, essv5016975, essv5075315, essv5130348, essv5098147, essv5084971, essv5063804, essv5007921, essv5053351, essv5022791, essv5130269, essv5106280, essv5070181, essv5031813, essv5136139, essv5157212, essv5024365, essv5045891, essv5140939, essv5075545, essv5138205, essv5014423, essv5116501, essv5051747, essv5027480, essv5002317, essv5035826, essv5145083, essv5129369, essv5066711, essv5141775, essv5146018, essv5026591, essv5051083, essv5055866, essv5161223, essv5048131, essv5152753, essv5121632, essv5109266, essv5014334, essv5068361, essv5150623, essv5034588, essv5047019, essv5016608, essv5133686, essv5100406, essv5109046, essv5017570, essv5009386, essv5074641, essv5132738, essv5142399, essv5040454, essv5044535, essv5109399, essv5080353, essv5054784, essv5003356, essv5031863, essv5116410, essv5027556, essv5063740
SamplesNA18497, NA20874, NA21317, NA19397, NA19203, NA18861, NA19914, NA21099, NA20294, NA21648, NA21723, NA21360, NA20364, NA19314, NA21371, NA19448, NA18498, NA21365, NA20336, NA19384, NA21109, NA20349, NA19915, NA20869, NA18520, NA21523, NA21415, NA21575, NA21448, NA19391, NA21118, NA20344, NA21485, NA20337, NA19118, NA21112, NA19101, NA19469, NA19160, NA19375, NA19094, NA18909, NA21144, NA21576, NA20870, NA19174, NA19380, NA21768, NA21733, NA21123, NA21647, NA19324, NA21094, NA21361, NA18911, NA20888, NA19818, NA19376, NA21580, NA21088, NA20871, NA20849, NA21102, NA21418, NA20345, NA21509, NA21363, NA19316, NA21421
Known GenesSTARD4-AS1
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)esv2422075
Frequency
Sample Size1184
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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