A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4317n100



Internal ID22790404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42781261..43251980hg38UCSC Ensembl
chr20:41409901..41880620hg19UCSC Ensembl
chr20:40843315..41314034hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38470720
hg19470720
hg18470720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063450, nsv1060690
Samples
Known GenesPTPRT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4317n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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