A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675103



Internal ID9594522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:168526..177588hg38UCSC Ensembl
chr18:168526..177588hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg389063
hg199063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5653979
SamplesHG00732
Known GenesUSP14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675103
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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