A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980659



Internal ID12625094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25246660..25478535hg38UCSC Ensembl
Innerchr22:25642627..25874502hg19UCSC Ensembl
Innerchr22:23972627..24204502hg18UCSC Ensembl
Innerchr22:23967181..24199056hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38231876
hg19231876
hg18231876
hg17231876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751944
Supporting Variants
SamplesBEC_101
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980659
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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