A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758547



Internal ID9634006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37607870..37869871hg38UCSC Ensembl
Innerchr22:38003877..38265878hg19UCSC Ensembl
Innerchr22:36333823..36595824hg18UCSC Ensembl
Innerchr22:36328377..36590378hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38262002
hg19262002
hg18262002
hg17262002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758838
Supporting Variantsessv20670, essv9810, essv17286, essv15502, essv9188, essv10635
SamplesNA18855, NA19128, NA18856, NA12892, NA18863, NA18505
Known GenesANKRD54, EIF3L, GALR3, GCAT, GGA1, H1F0, LGALS1, MIR658, MIR659, NOL12, PDXP, SH3BP1, TRIOBP
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)esv2758547
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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