A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12779



Internal ID9973903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50097252..50330033hg38UCSC Ensembl
Innerchr11:50056424..50289204hg19UCSC Ensembl
Innerchr11:50013000..50245780hg18UCSC Ensembl
Innerchr11:50013000..50245780hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38232782
hg19232781
hg18232781
hg17232781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758270
Supporting Variants
SamplesNA19120
Known GenesLOC441601
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)essv12779
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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