A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642946



Internal ID6683026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68684711..68687627hg38UCSC Ensembl
Innerchr18:68684711..68687627hg38UCSC Ensembl
Outerchr18:68684590..68687727hg38UCSC Ensembl
chr18:66351948..66354864hg19UCSC Ensembl
Innerchr18:66351948..66354864hg19UCSC Ensembl
Outerchr18:66351827..66354964hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg382917
hg192917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15922686
SamplesNA12283
Known GenesTMX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642946
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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