A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2513



Internal ID9623814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196827347..196986100hg38UCSC Ensembl
Innerchr1:196796477..196955230hg19UCSC Ensembl
Innerchr1:195063100..195221853hg18UCSC Ensembl
Innerchr1:193528134..193686887hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38158754
hg19158754
hg18158754
hg17158754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757766
Supporting Variants
SamplesNA19003
Known GenesCFHR1, CFHR2, 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)essv2513
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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