A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40e59



Internal ID20126789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9257906..9261004hg38UCSC Ensembl
chr1:9317965..9321063hg19UCSC Ensembl
chr1:9240552..9243650hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3446798, esv3335318, esv3394437
SamplesNA19238, NA19239, NA19240
Known GenesH6PD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv40e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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