A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751936



Internal ID12638802
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 StatusM
Merged Variantsdgv173e55
Supporting Variantsessv6985696, essv6985694, essv6985697, essv6985695
SamplesSPC_31
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751936
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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