A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2874



Internal ID9624278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196723718..196992672hg38UCSC Ensembl
Innerchr1:196692848..196961802hg19UCSC Ensembl
Innerchr1:194959471..195228425hg18UCSC Ensembl
Innerchr1:193424505..193693459hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38268955
hg19268955
hg18268955
hg17268955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757766
Supporting Variants
SamplesNA18953
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5
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)essv2874
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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