A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642985



Internal ID7029754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70358628..70416144hg38UCSC Ensembl
chr18:68025864..68083380hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3857517
hg1957517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15930899
SamplesHG00614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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