A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990512



Internal ID12625106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18157533..19070277hg38UCSC Ensembl
Innerchr22:18640300..19057790hg19UCSC Ensembl
Innerchr22:17020300..17437790hg18UCSC Ensembl
Innerchr22:17014854..17432344hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38912745
hg19417491
hg18417491
hg17417491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751937
Supporting Variants
SamplesBEC_103
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990512
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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