A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642455



Internal ID7029225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47253822..47324764hg38UCSC Ensembl
chr18:44780193..44851135hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3870943
hg1970943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15859670
SamplesHG02420
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642455
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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