A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2506e59



Internal ID20129255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44523141..44525439hg38UCSC Ensembl
chr21:45943024..45945322hg19UCSC Ensembl
chr21:44767452..44769750hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3333820, esv3433408
SamplesNA19238, NA19240
Known GenesTSPEAR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2506e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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