A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3181e59



Internal ID22764401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:208937..209835hg38UCSC Ensembl
chr5:209052..209950hg19UCSC Ensembl
chr5:262052..262950hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3451443, esv3385835, esv3337071
SamplesNA19238, NA19239, NA19240
Known GenesCCDC127
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3181e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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