A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642333



Internal ID7029103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41580898..41710478hg38UCSC Ensembl
chr18:39160862..39290442hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38129581
hg19129581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15855401, essv15855402
SamplesHG02142, HG01852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642333
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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