A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4050e59



Internal ID22765270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7572820..7576918hg38UCSC Ensembl
chr8:7430342..7434440hg19UCSC Ensembl
chr8:7417752..7421850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3435072, esv3383676
SamplesNA12878, NA12892
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4050e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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