A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2504e59



Internal ID20129253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43973843..43975541hg38UCSC Ensembl
chr21:45393724..45395422hg19UCSC Ensembl
chr21:44218152..44219850hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3337810, esv3352585
SamplesNA19239, NA19240
Known GenesAGPAT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2504e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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