A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758560



Internal ID9980637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:382794..601516hg38UCSC Ensembl
InnerchrX:343529..562251hg19UCSC Ensembl
InnerchrX:263529..482251hg18UCSC Ensembl
InnerchrX:313529..532251hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38218723
hg19218723
hg18218723
hg17218723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758854
Supporting Variantsessv9624, essv16981, essv20235
SamplesNA19141, NA12144, NA19144
Known GenesPPP2R3B
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)esv2758560
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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