A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16349



Internal ID9976848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83195683..83542628hg38UCSC Ensembl
Innerchr1:83661366..84008311hg19UCSC Ensembl
Innerchr1:83433954..83780899hg18UCSC Ensembl
Innerchr1:83373387..83720332hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38346946
hg19346946
hg18346946
hg17346946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757738
Supporting Variants
SamplesNA19193
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)essv16349
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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