A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv600n145



Internal ID22813616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13401471..14199432hg38UCSC Ensembl
chr2:13541596..14339556hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38797962
hg19797961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3110913, nsv3118126
Samplessample359, sample226
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv600n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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