A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15837721



Internal ID929327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31962074..31994047hg38UCSC Ensembl
chr18:29542037..29574010hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3831974
hg1931974
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642142
Supporting Variants
SamplesHG00554
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15837721
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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