A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758279



Internal ID9633738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85469436..85892945hg38UCSC Ensembl
Innerchr11:85180480..85603988hg19UCSC Ensembl
Innerchr11:84858128..85281636hg18UCSC Ensembl
Innerchr11:84858128..85281636hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38423510
hg19423509
hg18423509
hg17423509
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759845
Supporting Variantsessv22464, essv7704
SamplesNA18633, NA12761
Known GenesCCDC83, CCDC89, CREBZF, DLG2, SYTL2, TMEM126A, TMEM126B
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)esv2758279
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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