A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759012



Internal ID9634471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246243844..246577642hg38UCSC Ensembl
Innerchr1:246407146..246740944hg19UCSC Ensembl
Innerchr1:244473769..244807567hg18UCSC Ensembl
Innerchr1:242733187..243066985hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38333799
hg19333799
hg18333799
hg17333799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757779
SamplesNA18500, NA19144, NA19171
Known GenesCNST, LOC255654, SMYD3, TFB2M
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)esv2759012
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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