A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758826



Internal ID9634285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21940731..22054205hg38UCSC Ensembl
Innerchr22:22295103..22408604hg19UCSC Ensembl
Innerchr22:20625103..20738604hg18UCSC Ensembl
Innerchr22:20619657..20733158hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38113475
hg19113502
hg18113502
hg17113502
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758537
SamplesNA18523, NA12707, NA12005, NA18990, NA18572, NA12878, NA19204
Known GenesPPM1F, TOP3B
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)esv2758826
Frequency
Sample Size270
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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