A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758825



Internal ID9634284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20038970..20321924hg38UCSC Ensembl
Innerchr22:20026493..20309447hg19UCSC Ensembl
Innerchr22:18406493..18689447hg18UCSC Ensembl
Innerchr22:18401047..18684001hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38282955
hg19282955
hg18282955
hg17282955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758536
SamplesNA18861, NA19102
Known GenesDGCR6L, DGCR8, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR3618, MIR6816, RANBP1, RTN4R, TANGO2, TRMT2A, ZDHHC8
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)esv2758825
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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