A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3249e59



Internal ID20129998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32001389..32003587hg38UCSC Ensembl
chr5:32001495..32003693hg19UCSC Ensembl
chr5:32037252..32039450hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3450012, esv3412080
SamplesNA19239, NA19240
Known GenesPDZD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3249e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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