A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17838



Internal ID9955092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57057396..57261261hg38UCSC Ensembl
Innerchr2:57284531..57488396hg19UCSC Ensembl
Innerchr2:57138035..57341900hg18UCSC Ensembl
Innerchr2:57196182..57400047hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38203866
hg19203866
hg18203866
hg17203866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757801
Supporting Variants
SamplesNA10831
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)essv17838
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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