A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421517



Internal ID7905279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113090435..113112714hg38UCSC Ensembl
Innerchr9:115852715..115874994hg19UCSC Ensembl
Innerchr9:114892536..114914815hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3822280
hg1922280
hg1822280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5149022, essv5114639, essv5083029, essv5021981, essv5086059, essv5154754, essv5083936, essv5016669, essv5021168, essv5060469, essv5116843, essv5103667, essv5099585, essv5080904, essv5143233, essv5114677, essv5063505, essv5086469, essv5007160, essv5117060, essv5005737, essv5123603, essv5055030, essv5053336, essv5144144, essv5009362, essv5019420, essv5142507, essv5102907, essv5029345, essv5118945
SamplesNA19399, NA21717, NA19377, NA19443, NA19382, NA21359, NA21473, NA19038, NA21382, NA21453, NA21716, NA21634, NA21414, NA21596, NA20126, NA18871, NA21339, NA21583, NA19625, NA21424, NA19380, NA21718, NA21647, NA19470, NA19467, NA21388, NA21361, NA20807, NA21455, NA21722, NA21389
Known GenesFAM225B
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)esv2421517
Frequency
Sample Size1184
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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