A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18966



Internal ID9616964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196621707..196843652hg38UCSC Ensembl
Innerchr1:196590837..196812782hg19UCSC Ensembl
Innerchr1:194857460..195079405hg18UCSC Ensembl
Innerchr1:193322494..193544439hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38221946
hg19221946
hg18221946
hg17221946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757766
Supporting Variants
SamplesNA12005
Known GenesCFH, CFHR1, CFHR3
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)essv18966
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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