A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590240



Internal ID6977569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32117762..32141766hg38UCSC Ensembl
chr2:32342831..32366835hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3824005
hg1924005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447576
SamplesHG00500
Known GenesSPAST
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590240
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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