A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2629e59



Internal ID22763849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48541876..48543174hg38UCSC Ensembl
chr22:48937688..48938986hg19UCSC Ensembl
chr22:47316352..47317650hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3447537, esv3410839
SamplesNA19238, NA19240
Known GenesFAM19A5, LOC284933
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2629e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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