A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647280



Internal ID6687335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19901541..19962814hg38UCSC Ensembl
chr22:19889064..19950337hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3861274
hg1961274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16366909
SamplesHG00141
Known GenesCOMT, TXNRD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647280
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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