A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2497e59



Internal ID18987998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42292373..42294471hg38UCSC Ensembl
chr21:43712483..43714581hg19UCSC Ensembl
chr21:42585552..42587650hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3379059, esv3384821, esv3395228
SamplesNA19239, NA19238, NA19240
Known GenesABCG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2497e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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