A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv240e55



Internal ID22761190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:240568..460640hg38UCSC Ensembl
chr8:190568..410640hg19UCSC Ensembl
chr8:180568..400640hg18UCSC Ensembl
chr8:180568..400640hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38220073
hg19220073
hg18220073
hg17220073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34882, esv34734
SamplesNA19209, NA19211
Known GenesFAM87A, FBXO25, ZNF596
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)dgv240e55
Frequency
Sample Size771
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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