A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835322



Internal ID884985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30410024..30472228hg38UCSC Ensembl
chr18:27989990..28052194hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3862205
hg1962205
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642104
Supporting Variants
SamplesHG00476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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