A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22464



Internal ID9620852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85631653..85892945hg38UCSC Ensembl
Innerchr11:85342697..85603988hg19UCSC Ensembl
Innerchr11:85020345..85281636hg18UCSC Ensembl
Innerchr11:85020345..85281636hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38261293
hg19261292
hg18261292
hg17261292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758279
Supporting Variants
SamplesNA12761
Known GenesCCDC83, CCDC89, CREBZF, 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)essv22464
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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