A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4856



Internal ID9963315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:144794227..144980680hg38UCSC Ensembl
Innerchr5:144173790..144360243hg19UCSC Ensembl
Innerchr5:144153983..144340436hg18UCSC Ensembl
Innerchr5:144153983..144340436hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38186454
hg19186454
hg18186454
hg17186454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758020
Supporting Variants
SamplesNA18540
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)essv4856
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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