A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2576e59



Internal ID22763796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20337929..20339427hg38UCSC Ensembl
chr22:20325452..20326950hg19UCSC Ensembl
chr22:18705452..18706950hg18UCSC Ensembl
Cytoband22q11.21
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 Variantsesv3332045, esv3330850, esv3391256
SamplesNA12891, NA19238, NA19240
Known GenesLOC729444
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2576e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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