A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759392



Internal ID9634851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172113419..172308268hg38UCSC Ensembl
Innerchr5:171540423..171735272hg19UCSC Ensembl
Innerchr5:171473028..171667877hg18UCSC Ensembl
Innerchr5:171473028..171667877hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38194850
hg19194850
hg18194850
hg17194850
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758027
SamplesNA18952, NA18966, NA18517, NA12005, NA18949, NA18624, NA11840, NA12864, NA18976, NA19000, NA19101, NA06991, NA18971, NA06994, NA07000
Known GenesEFCAB9, STK10, UBTD2
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)esv2759392
Frequency
Sample Size270
Observed Gain9
Observed Loss6
Observed Complex0
Frequencyn/a


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