A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982729



Internal ID12628769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903454..19050022hg38UCSC Ensembl
Innerchr22:18890967..19037535hg19UCSC Ensembl
Innerchr22:17270967..17417535hg18UCSC Ensembl
Innerchr22:17265521..17412089hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38146569
hg19146569
hg18146569
hg17146569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751939
Supporting Variants
SamplesBEC_584
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982729
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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