A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13848



Internal ID9611278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70903015..71500057hg38UCSC Ensembl
Innerchr5:70198842..70795884hg19UCSC Ensembl
Innerchr5:70234598..70831640hg18UCSC Ensembl
Innerchr5:70234598..70831640hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38597043
hg19597043
hg18597043
hg17597043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757998
Supporting Variants
SamplesNA18854
Known GenesBDP1, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC647859, NAIP, PMCHL2, SERF1A, SERF1B, SMN1, SMN2
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)essv13848
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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