A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3183e59



Internal ID20129932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:344337..344735hg38UCSC Ensembl
chr5:344452..344850hg19UCSC Ensembl
chr5:397452..397850hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3333510, esv3340684
SamplesNA19238, NA12878
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3183e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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