A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759398



Internal ID9634857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180107477..180302944hg38UCSC Ensembl
Innerchr5:179534477..179729944hg19UCSC Ensembl
Innerchr5:179467083..179662550hg18UCSC Ensembl
Innerchr5:179467083..179662550hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38195468
hg19195468
hg18195468
hg17195468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758032
SamplesNA19144
Known GenesGFPT2, MAPK9, RASGEF1C
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)esv2759398
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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