A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421421



Internal ID7905183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62725627..62730185hg38UCSC Ensembl
Innerchr3:62711302..62715860hg19UCSC Ensembl
Innerchr3:62686342..62690900hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384559
hg194559
hg184559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5027475, essv5014258, essv5048412, essv5158541, essv5013640, essv5012560, essv5079365, essv5140033, essv5089699, essv5080588, essv5015392, essv5019640, essv5054467, essv5060202, essv5132810, essv5012652, essv5046231, essv5092512, essv5117191, essv5044039, essv5119577, essv5106319, essv5022419, essv5113609, essv5158918, essv5120595, essv5031902
SamplesNA20300, NA18870, NA19379, NA18489, NA19198, NA19199, NA20340, NA19385, NA19128, NA21420, NA19985, NA20301, NA19908, NA19210, NA18516, NA21617, NA19774, NA19160, NA19144, NA19919, NA19439, NA20333, NA18501, NA20302, NA19713, NA18500, NA18872
Known GenesCADPS
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)esv2421421
Frequency
Sample Size1184
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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