A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985937



Internal ID12637584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25246660..25534817hg38UCSC Ensembl
Innerchr22:25642627..25930784hg19UCSC Ensembl
Innerchr22:23972627..24260784hg18UCSC Ensembl
Innerchr22:23967181..24255338hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38288158
hg19288158
hg18288158
hg17288158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751947
Supporting Variants
SamplesSPC_86
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985937
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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