A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv242e55



Internal ID22761192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3829877..6108559hg38UCSC Ensembl
chr8:3687399..5966081hg19UCSC Ensembl
chr8:3674807..5953489hg18UCSC Ensembl
chr8:3674807..5953489hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382278683
hg192278683
hg182278683
hg172278683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34221, esv34327, esv35028
SamplesNA19007, NA19012, NA18972
Known GenesCSMD1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv242e55
Frequency
Sample Size771
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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