A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4240



Internal ID9625797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20845477..21003455hg38UCSC Ensembl
Innerchr14:21313636..21471614hg19UCSC Ensembl
Innerchr14:20383476..20541454hg18UCSC Ensembl
Innerchr14:20383476..20541454hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38157979
hg19157979
hg18157979
hg17157979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758349
Supporting Variants
SamplesNA18603
Known GenesECRP, METTL17, RNASE2, RNASE3, SLC39A2
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)essv4240
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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