A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751951



Internal ID12638817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254681..25557884hg38UCSC Ensembl
Innerchr22:25650648..25953851hg19UCSC Ensembl
Innerchr22:23980648..24283851hg18UCSC Ensembl
Innerchr22:23975202..24278405hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38303204
hg19303204
hg18303204
hg17303204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6984618, essv6984617, essv6984616, essv6987639, essv6987638
SamplesBEC_725
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)esv2751951
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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