A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4233e59



Internal ID22765453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124755189..124755286hg38UCSC Ensembl
chr8:125767431..125767528hg19UCSC Ensembl
chr8:125836612..125836709hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302584, esv3302798
SamplesNA18508, NA10851, NA18603, NA18870, NA12891, NA11992, NA19138, NA18949, NA19137, NA19238, NA19239, NA12878, NA18570, NA11881, NA19240, NA18501, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4233e59
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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