A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751946



Internal ID12638812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25245079..25529111hg38UCSC Ensembl
Innerchr22:25641046..25925078hg19UCSC Ensembl
Innerchr22:23971046..24255078hg18UCSC Ensembl
Innerchr22:23965600..24249632hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38284033
hg19284033
hg18284033
hg17284033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6981295, essv6988383, essv6981294, essv6985534, essv6985533
SamplesBEC_379
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)esv2751946
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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