A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2503e59



Internal ID20129252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43603843..43605541hg38UCSC Ensembl
chr21:45023724..45025422hg19UCSC Ensembl
chr21:43848152..43849850hg18UCSC 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 Variantsesv3385508, esv3334623
SamplesNA19239, NA19238
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2503e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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