A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv254e55



Internal ID20126733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40910..499586hg38UCSC Ensembl
chr9:40910..499586hg19UCSC Ensembl
chr9:30910..489586hg18UCSC Ensembl
chr9:30910..489586hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38458677
hg19458677
hg18458677
hg17458677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752304, esv2752306
SamplesBEC_131, BEC_635
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
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)dgv254e55
Frequency
Sample Size771
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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