A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757741



Internal ID9979818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:95950195..96080558hg38UCSC Ensembl
Innerchr1:96415751..96546114hg19UCSC Ensembl
Innerchr1:96188339..96318702hg18UCSC Ensembl
Innerchr1:96127772..96258135hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38130364
hg19130364
hg18130364
hg17130364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758951
Supporting Variantsessv4921
SamplesNA18561
Known Genes
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)esv2757741
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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