A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934078



Internal ID6633361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74457578..74467353hg38UCSC Ensembl
chr18:72124813..72134588hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg389776
hg199776
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643119
Supporting Variants
SamplesNA20795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934078
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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