A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7704



Internal ID9629645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85469436..85718448hg38UCSC Ensembl
Innerchr11:85180480..85429491hg19UCSC Ensembl
Innerchr11:84858128..85107139hg18UCSC Ensembl
Innerchr11:84858128..85107139hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38249013
hg19249012
hg18249012
hg17249012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758279
Supporting Variants
SamplesNA18633
Known GenesCCDC89, 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)essv7704
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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