A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642270



Internal ID7029040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39051856..39072723hg38UCSC Ensembl
chr18:36631820..36652687hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3820868
hg1920868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15846608, essv15846607
SamplesHG00326, HG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642270
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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