A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4042e59



Internal ID22765262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6678571..6679068hg38UCSC Ensembl
chr8:6536092..6536589hg19UCSC Ensembl
chr8:6523500..6523997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38498
hg19498
hg18498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3409054, esv3451275
SamplesNA12878, NA19240
Known Genes
MethodSequencing
Analysis
Platform454
SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4042e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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