A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv299e59



Internal ID20127048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453218..229453411hg38UCSC Ensembl
chr1:229588965..229589158hg19UCSC Ensembl
chr1:227655588..227655781hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38194
hg19194
hg18194
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302452, esv3302775
SamplesNA18861, NA18510, NA07346, NA19138, NA19238, NA18853, NA19099, NA18523, NA19108, NA19147, NA19240, NA19102
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv299e59
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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