A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751962



Internal ID12638828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25286813..25523810hg38UCSC Ensembl
Innerchr22:25682780..25919777hg19UCSC Ensembl
Innerchr22:24012780..24249777hg18UCSC Ensembl
Innerchr22:24007334..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38236998
hg19236998
hg18236998
hg17236998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6988744, essv6984026, essv6987479, essv6984024, essv6984025
SamplesBEC_745
Known GenesCRYBB2P1, 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)esv2751962
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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