A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758066



Internal ID9980143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:86746785..86935496hg38UCSC Ensembl
Innerchr6:87456503..87645214hg19UCSC Ensembl
Innerchr6:87513222..87701933hg18UCSC Ensembl
Innerchr6:87513222..87701933hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38188712
hg19188712
hg18188712
hg17188712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759452
Supporting Variantsessv4389, essv22237, essv19100, essv14118, essv1959, essv11674, essv5799, essv17835, essv22541, essv19490, essv22753, essv19174, essv8742, essv24990, essv23186, essv683, essv15525, essv15654, essv19418, essv17714, essv21126, essv13143, essv15206, essv17466, essv15006, essv23031, essv21705, essv20285, essv19895, essv23982, essv12704
SamplesNA18861, NA19092, NA12248, NA18959, NA12865, NA18870, NA12813, NA12812, NA07019, NA12156, NA12044, NA12815, NA10839, NA18975, NA10831, NA12872, NA18566, NA18573, NA11840, NA18912, NA19154, NA12144, NA12043, NA19094, NA18914, NA12716, NA12864, NA07348, NA07055, NA19102, NA18505
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758066
Frequency
Sample Size270
Observed Gain18
Observed Loss13
Observed Complex0
Frequencyn/a


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