A curated catalogue of human genomic structural variation




Variant Details

Variant: essv175



Internal ID9970267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13394953..13858532hg38UCSC Ensembl
Innerchr21:14767274..15230853hg19UCSC Ensembl
Innerchr21:13689145..14152724hg18UCSC Ensembl
Innerchr21:13689145..14152724hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38463580
hg19463580
hg18463580
hg17463580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758529
Supporting Variants
SamplesNA18968
Known GenesC21orf15, LOC100288966, MIR3156-3, 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)essv175
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer