A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758845



Internal ID9980990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46993418..47214770hg38UCSC Ensembl
Innerchr22:47389314..47610520hg19UCSC Ensembl
Innerchr22:45767978..45989184hg18UCSC Ensembl
Innerchr22:45709833..45931039hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38221353
hg19221207
hg18221207
hg17221207
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758553
SamplesNA12717, NA11829, NA18529, NA19154, NA18523, NA12864, NA19211
Known GenesTBC1D22A
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)esv2758845
Frequency
Sample Size270
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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