A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13838



Internal ID9966919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72285742..72421130hg38UCSC Ensembl
Innerchr1:72751425..72886813hg19UCSC Ensembl
Innerchr1:72524013..72659401hg18UCSC Ensembl
Innerchr1:72463446..72598834hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38135389
hg19135389
hg18135389
hg17135389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757734
Supporting Variants
SamplesNA18854
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)essv13838
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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