A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv174e55



Internal ID20126653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18903433..19050022hg38UCSC Ensembl
chr22:18890946..19037535hg19UCSC Ensembl
chr22:17270946..17417535hg18UCSC Ensembl
chr22:17265500..17412089hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38146590
hg19146590
hg18146590
hg17146590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34431, esv2751938, esv34826, esv2751939
SamplesBEC_41, BEC_584, NA10856, NA12006
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv174e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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