A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980672



Internal ID12625102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903454..19019471hg38UCSC Ensembl
Innerchr22:18890967..19006984hg19UCSC Ensembl
Innerchr22:17270967..17386984hg18UCSC Ensembl
Innerchr22:17265521..17381538hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38116018
hg19116018
hg18116018
hg17116018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751937
Supporting Variants
SamplesBEC_103
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980672
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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