A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758810



Internal ID9980955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:15540327..15724359hg38UCSC Ensembl
Innerchr21:16912646..17096678hg19UCSC Ensembl
Innerchr21:15834517..16018549hg18UCSC Ensembl
Innerchr21:15834517..16018549hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38184033
hg19184033
hg18184033
hg17184033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758530
SamplesNA19007
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)esv2758810
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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