A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4272e59



Internal ID22765492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144767463..144768761hg38UCSC Ensembl
chr8:145992848..145994146hg19UCSC Ensembl
chr8:145963652..145964950hg18UCSC Ensembl
Cytoband8q24.3
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 Variantsesv3323125, esv3394388
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4272e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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