A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4072e59



Internal ID22765292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8229420..8230718hg38UCSC Ensembl
chr8:8086942..8088240hg19UCSC Ensembl
chr8:8124352..8125650hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3349809, esv3386322
SamplesNA19239, NA19240
Known GenesFAM86B3P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4072e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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