A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7956n54



Internal ID20141380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17659788..17661549hg38UCSC Ensembl
chr22:18142554..18144315hg19UCSC Ensembl
chr22:16522554..16524315hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381762
hg191762
hg181762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588110, nsv588113, nsv588115, nsv588117, nsv588111
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7956n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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