A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977981



Internal ID12631741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25246660..25523810hg38UCSC Ensembl
Innerchr22:25642627..25919777hg19UCSC Ensembl
Innerchr22:23972627..24249777hg18UCSC Ensembl
Innerchr22:23967181..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38277151
hg19277151
hg18277151
hg17277151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34683
Supporting Variants
SamplesNA10854
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6977981
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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