A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759318



Internal ID9634777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:4980763..5184502hg38UCSC Ensembl
Innerchr5:4980876..5184615hg19UCSC Ensembl
Innerchr5:5033876..5237615hg18UCSC Ensembl
Innerchr5:5033876..5237615hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38203740
hg19203740
hg18203740
hg17203740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757980
SamplesNA12813
Known GenesADAMTS16, LINC01020
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)esv2759318
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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