A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758182



Internal ID9633641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12621991..12784093hg38UCSC Ensembl
Innerchr9:12621991..12784092hg19UCSC Ensembl
Innerchr9:12611991..12774092hg18UCSC Ensembl
Innerchr9:12611991..12774092hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38162103
hg19162102
hg18162102
hg17162102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759671
Supporting Variantsessv18757, essv10083
SamplesNA19130, NA12874
Known GenesLURAP1L, TYRP1
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)esv2758182
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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