A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855400



Internal ID4812904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41580898..41710478hg38UCSC Ensembl
chr18:39160862..39290442hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38129581
hg19129581
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642332
Supporting Variants
SamplesNA12004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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