A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647573



Internal ID7034313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30855313..30884216hg38UCSC Ensembl
chr22:31251300..31280203hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3828904
hg1928904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403053
SamplesHG03777
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647573
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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