A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23139



Internal ID9621602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36779110..36848730hg38UCSC Ensembl
Innerchr22:37175154..37244772hg19UCSC Ensembl
Innerchr22:35505100..35574718hg18UCSC Ensembl
Innerchr22:35499654..35569272hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3869621
hg1969619
hg1869619
hg1769619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758546
Supporting Variants
SamplesNA12891
Known GenesPVALB
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)essv23139
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