A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5425694



Internal ID8998377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46096879..46097728hg38UCSC Ensembl
chr18:43676845..43677694hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669122
Supporting Variants
SamplesHG00596
Known GenesATP5A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5425694
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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