A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11638



Internal ID9975895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195286797..195611082hg38UCSC Ensembl
Innerchr1:195255927..195580212hg19UCSC Ensembl
Innerchr1:193522550..193846835hg18UCSC Ensembl
Innerchr1:191987584..192311869hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38324286
hg19324286
hg18324286
hg17324286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757764
Supporting Variants
SamplesNA19154
Known Genes
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)essv11638
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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