A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2434e59



Internal ID22763654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46217106..46218104hg38UCSC Ensembl
chr20:44845745..44846743hg19UCSC Ensembl
chr20:44279152..44280150hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3428176, esv3446053
SamplesNA19238, NA19239
Known GenesCDH22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2434e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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