A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22342



Internal ID9620717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224900222..225065572hg38UCSC Ensembl
Innerchr1:225087924..225253274hg19UCSC Ensembl
Innerchr1:223154547..223319897hg18UCSC Ensembl
Innerchr1:221394659..221560009hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38165351
hg19165351
hg18165351
hg17165351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757773
Supporting Variants
SamplesNA06985
Known GenesDNAH14
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)essv22342
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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