A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2561e59



Internal ID20129310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876586..17877784hg38UCSC Ensembl
chr22:18359352..18360550hg19UCSC Ensembl
chr22:16739352..16740550hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3392171, esv3368668
SamplesNA12891, NA12878
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2561e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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