A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421767



Internal ID7905529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135978531..135981035hg38UCSC Ensembl
Innerchr3:135697373..135699877hg19UCSC Ensembl
Innerchr3:137180063..137182567hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg382505
hg192505
hg182505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5136512, essv5022703, essv5076468, essv5109081, essv5064418, essv5048646, essv5046806, essv5049401, essv5083519, essv5012552, essv5144661, essv5075517, essv5013287, essv5076663, essv5063961, essv5116428, essv5137689, essv5158364, essv5090477, essv5139666, essv5018142, essv5146327, essv5036613, essv5030609, essv5062608, essv5036708, essv5113773, essv5024333, essv5141514, essv5158537, essv5052942, essv5132976
SamplesNA19394, NA20290, NA19222, NA18924, NA19249, NA18862, NA19122, NA18925, NA19107, NA19381, NA19192, NA19319, NA20288, NA20287, NA21382, NA19189, NA19247, NA19403, NA18485, NA19221, NA19181, NA19452, NA19183, NA18863, NA20333, NA19109, NA19438, NA19468, NA19711, NA19429, NA19214, NA20350
Known GenesPPP2R3A
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)esv2421767
Frequency
Sample Size1184
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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