A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982728



Internal ID12628770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903454..19018612hg38UCSC Ensembl
Innerchr22:18890967..19006125hg19UCSC Ensembl
Innerchr22:17270967..17386125hg18UCSC Ensembl
Innerchr22:17265521..17380679hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38115159
hg19115159
hg18115159
hg17115159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751939
Supporting Variants
SamplesBEC_584
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982728
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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