A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14502



Internal ID9612006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39737264..40015223hg38UCSC Ensembl
Innerchr19:40227904..40521130hg19UCSC Ensembl
Innerchr19:44919744..45212970hg18UCSC Ensembl
Innerchr19:44919744..45212970hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38277960
hg19293227
hg18293227
hg17293227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758498
Supporting Variants
SamplesNA19202
Known GenesCLC, DYRK1B, FBL, FCGBP, LEUTX, MIR6719, PSMC4, ZNF546
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)essv14502
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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