A curated catalogue of human genomic structural variation




Variant Details

Variant: essv906



Internal ID9972284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13262211..13523203hg38UCSC Ensembl
Innerchr21:14634532..14895524hg19UCSC Ensembl
Innerchr21:13556403..13817395hg18UCSC Ensembl
Innerchr21:13556403..13817395hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38260993
hg19260993
hg18260993
hg17260993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758529
Supporting Variants
SamplesNA19000
Known GenesMIR3156-3
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)essv906
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