A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5546



Internal ID9963002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76314794..76478228hg38UCSC Ensembl
Innerchr2:76541920..76705354hg19UCSC Ensembl
Innerchr2:76395428..76558862hg18UCSC Ensembl
Innerchr2:76453575..76617009hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38163435
hg19163435
hg18163435
hg17163435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757809
Supporting Variants
SamplesNA18529
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)essv5546
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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