A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1727e59



Internal ID22762947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31962120..31963218hg38UCSC Ensembl
chr17:30289139..30290237hg19UCSC Ensembl
chr17:27313252..27314350hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3352779, esv3412652
SamplesNA19239, NA19240
Known GenesSUZ12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1727e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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