A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv119n145



Internal ID22813135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231418915..231425686hg38UCSC Ensembl
chr1:231554661..231561432hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386772
hg196772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117836, nsv3110554, nsv3113200, nsv3117063, nsv3116081
Samplessample81, sample378, sample372, sample304, sample296
Known GenesEGLN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv119n145
Frequency
Sample Size467
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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