A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv163e55



Internal ID20126642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164768076..164882983hg38UCSC Ensembl
chr2:165624586..165739493hg19UCSC Ensembl
chr2:165332832..165447739hg18UCSC Ensembl
chr2:165450093..165565000hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38114908
hg19114908
hg18114908
hg17114908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751833, esv2751832
SamplesBEC_658, BEC_404
Known GenesCOBLL1
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)dgv163e55
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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