A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985696



Internal ID12637202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18907714..19016425hg38UCSC Ensembl
Innerchr22:18895227..19003938hg19UCSC Ensembl
Innerchr22:17275227..17383938hg18UCSC Ensembl
Innerchr22:17269781..17378492hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38108712
hg19108712
hg18108712
hg17108712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751936
Supporting Variants
SamplesSPC_31
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985696
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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