A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8111n54



Internal ID19000287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41731777..41819680hg38UCSC Ensembl
chr22:42127781..42215684hg19UCSC Ensembl
chr22:40457727..40545630hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3887904
hg1987904
hg1887904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589052, nsv589051
Samples
Known GenesCCDC134, MEI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8111n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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