A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23875



Internal ID9622419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8073535..8667018hg38UCSC Ensembl
Innerchr20:8054182..8647665hg19UCSC Ensembl
Innerchr20:8002182..8595665hg18UCSC Ensembl
Innerchr20:8002182..8595665hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38593484
hg19593484
hg18593484
hg17593484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758511
Supporting Variants
SamplesNA12814
Known GenesPLCB1
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)essv23875
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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