A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv82e59



Internal ID20126831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43558994..43561092hg38UCSC Ensembl
chr1:44024665..44026763hg19UCSC Ensembl
chr1:43797252..43799350hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3431707, esv3412000
SamplesNA19239, NA19240
Known GenesPTPRF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv82e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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