A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842461



Internal ID5844277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36659865..36881208hg38UCSC Ensembl
chr18:34239828..34461171hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38221344
hg19221344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642236
Supporting Variants
SamplesNA12004
Known GenesFHOD3, KIAA1328, TPGS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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