A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978074



Internal ID12631891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903433..19019433hg38UCSC Ensembl
Innerchr22:18890946..19006946hg19UCSC Ensembl
Innerchr22:17270946..17386946hg18UCSC Ensembl
Innerchr22:17265500..17381500hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38116001
hg19116001
hg18116001
hg17116001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34520
Supporting Variants
SamplesNA11829
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978074
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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