A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758834



Internal ID9980979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:34347675..34386920hg38UCSC Ensembl
Innerchr22:34743665..34782910hg19UCSC Ensembl
Innerchr22:33073665..33112910hg18UCSC Ensembl
Innerchr22:33068219..33107464hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3839246
hg1939246
hg1839246
hg1739246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758543
SamplesNA06994
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)esv2758834
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