A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18122



Internal ID9616028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196723718..196843652hg38UCSC Ensembl
Innerchr1:196692848..196812782hg19UCSC Ensembl
Innerchr1:194959471..195079405hg18UCSC Ensembl
Innerchr1:193424505..193544439hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38119935
hg19119935
hg18119935
hg17119935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757766
Supporting Variants
SamplesNA11993
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)essv18122
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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