A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647478



Internal ID6687533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25598397..25702971hg38UCSC Ensembl
chr22:25994364..26098938hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38104575
hg19104575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16395776
SamplesHG04090
Known GenesADRBK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647478
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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