A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758005



Internal ID9980082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99269621..99553890hg38UCSC Ensembl
Innerchr5:98605325..98889594hg19UCSC Ensembl
Innerchr5:98633225..98917493hg18UCSC Ensembl
Innerchr5:98633225..98917493hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38284270
hg19284270
hg18284269
hg17284269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759358
Supporting Variantsessv6184
SamplesNA18532
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)esv2758005
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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