A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3197e59



Internal ID20129946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1272537..1273935hg38UCSC Ensembl
chr5:1272652..1274050hg19UCSC Ensembl
chr5:1325652..1327050hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3423009, esv3380000, esv3444086
SamplesNA19239, NA19238, NA12878
Known GenesTERT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3197e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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