A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758544



Internal ID9634003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35042419..35236960hg38UCSC Ensembl
Innerchr22:35438411..35632953hg19UCSC Ensembl
Innerchr22:33768411..33962953hg18UCSC Ensembl
Innerchr22:33762965..33957507hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38194542
hg19194543
hg18194543
hg17194543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758835
Supporting Variantsessv7027
SamplesNA18612
Known GenesISX
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)esv2758544
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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