A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985694



Internal ID12637200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18157533..19019471hg38UCSC Ensembl
Innerchr22:18640300..19006984hg19UCSC Ensembl
Innerchr22:17020300..17386984hg18UCSC Ensembl
Innerchr22:17014854..17381538hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38861939
hg19366685
hg18366685
hg17366685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751936
Supporting Variants
SamplesSPC_31
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985694
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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