A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21261



Internal ID9955847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21778632..22163809hg38UCSC Ensembl
Innerchr5:21778741..22163918hg19UCSC Ensembl
Innerchr5:21814498..22199675hg18UCSC Ensembl
Innerchr5:21814498..22199675hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38385178
hg19385178
hg18385178
hg17385178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757989
Supporting Variants
SamplesNA10855
Known GenesCDH12, PMCHL1
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)essv21261
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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