A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10286



Internal ID9607321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..842109hg38UCSC Ensembl
Innerchr5:620163..842224hg19UCSC Ensembl
Innerchr5:673163..895224hg18UCSC Ensembl
Innerchr5:673163..895224hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38222062
hg19222062
hg18222062
hg17222062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757978
Supporting Variants
SamplesNA18506
Known GenesCEP72, TPPP, ZDHHC11
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)essv10286
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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