A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2500e59



Internal ID18988001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42669673..42671171hg38UCSC Ensembl
chr21:44089783..44091281hg19UCSC Ensembl
chr21:42962852..42964350hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3424192, esv3331071, esv3330808
SamplesNA19239, NA19238, NA19240
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2500e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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