A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751942



Internal ID12638808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25223279..25529111hg38UCSC Ensembl
Innerchr22:25619246..25925078hg19UCSC Ensembl
Innerchr22:23949246..24255078hg18UCSC Ensembl
Innerchr22:23943800..24249632hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38305833
hg19305833
hg18305833
hg17305833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6984644, essv6984643, essv6984642, essv6988830
SamplesSPC_162
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751942
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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