A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21419



Internal ID9959275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47041539..47214770hg38UCSC Ensembl
Innerchr22:47437435..47610520hg19UCSC Ensembl
Innerchr22:45816099..45989184hg18UCSC Ensembl
Innerchr22:45757954..45931039hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38173232
hg19173086
hg18173086
hg17173086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758553
Supporting Variants
SamplesNA12717
Known GenesTBC1D22A
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)essv21419
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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