A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642749



Internal ID7029518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62319276..62321467hg38UCSC Ensembl
Innerchr18:62319302..62321441hg38UCSC Ensembl
Outerchr18:62319250..62321493hg38UCSC Ensembl
chr18:59986509..59988700hg19UCSC Ensembl
Innerchr18:59986535..59988674hg19UCSC Ensembl
Outerchr18:59986483..59988726hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382192
hg192192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15903253
SamplesHG03578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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