A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4190e59



Internal ID22765410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85642571..85664222hg38UCSC Ensembl
chr8:86554800..86576451hg19UCSC Ensembl
chr8:86742052..86763750hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3821652
hg1921652
hg1821699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3446446, esv3451518, esv3426842, esv3386620, esv3386586, esv3411663
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesREXO1L1, REXO1L2P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4190e59
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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