A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21390



Internal ID9619659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17530543..17821024hg38UCSC Ensembl
Innerchr5:17530652..17821133hg19UCSC Ensembl
Innerchr5:17583652..17856890hg18UCSC Ensembl
Innerchr5:17583652..17856890hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38290482
hg19290482
hg18273239
hg17273239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757986
Supporting Variants
SamplesNA12740
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)essv21390
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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