A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12368



Internal ID9974776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24661755..24701724hg38UCSC Ensembl
Innerchr22:25057722..25097691hg19UCSC Ensembl
Innerchr22:23387722..23427691hg18UCSC Ensembl
Innerchr22:23382276..23422245hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3839970
hg1939970
hg1839970
hg1739970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758538
Supporting Variants
SamplesNA19138
Known Genes
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)essv12368
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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