A curated catalogue of human genomic structural variation




Variant Details

Variant: essv838



Internal ID9970791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13585227..13858532hg38UCSC Ensembl
Innerchr21:14957548..15230853hg19UCSC Ensembl
Innerchr21:13879419..14152724hg18UCSC Ensembl
Innerchr21:13879419..14152724hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38273306
hg19273306
hg18273306
hg17273306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758529
Supporting Variants
SamplesNA18973
Known GenesC21orf15, LOC100288966, MIR8069, POTED
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)essv838
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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