A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3184e59



Internal ID20129933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:396937..398435hg38UCSC Ensembl
chr5:397052..398550hg19UCSC Ensembl
chr5:450052..451550hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3418634, esv3334724
SamplesNA19239, NA19240
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3184e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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