A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4318n100



Internal ID19014686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42889370..43076234hg38UCSC Ensembl
chr20:41518010..41704874hg19UCSC Ensembl
chr20:40951424..41138288hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38186865
hg19186865
hg18186865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060468, nsv1061053
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)dgv4318n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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