A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757848



Internal ID9633307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221497435..221633464hg38UCSC Ensembl
Innerchr2:222362155..222498184hg19UCSC Ensembl
Innerchr2:222070399..222206428hg18UCSC Ensembl
Innerchr2:222187660..222323689hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38136030
hg19136030
hg18136030
hg17136030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759115
Supporting Variantsessv11445, essv17339
SamplesNA18856, NA18857
Known GenesEPHA4
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)esv2757848
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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