A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758214



Internal ID9980291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38575705..38861804hg38UCSC Ensembl
Innerchr10:38868836..39154935hg19UCSC Ensembl
Innerchr10:38908842..39194941hg18UCSC Ensembl
Innerchr10:38908842..39194941hg17UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38286100
hg19286100
hg18286100
hg17286100
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759744
Supporting Variantsessv8244, essv15297, essv17287, essv11569, essv5348, essv1228, essv12221, essv18206
SamplesNA18862, NA18563, NA18995, NA18856, NA19101, NA12057, NA19173, NA19116
Known GenesACTR3BP5
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)esv2758214
Frequency
Sample Size270
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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