A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751938



Internal ID12638804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903433..19019471hg38UCSC Ensembl
Innerchr22:18890946..19006984hg19UCSC Ensembl
Innerchr22:17270946..17386984hg18UCSC Ensembl
Innerchr22:17265500..17381538hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38116039
hg19116039
hg18116039
hg17116039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv174e55
Supporting Variantsessv6982275, essv6982276, essv6986126, essv6986127
SamplesBEC_41
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751938
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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