A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642980



Internal ID7029749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69981380..69984194hg38UCSC Ensembl
Innerchr18:69981380..69984194hg38UCSC Ensembl
Outerchr18:69981150..69984432hg38UCSC Ensembl
chr18:67648616..67651430hg19UCSC Ensembl
Innerchr18:67648616..67651430hg19UCSC Ensembl
Outerchr18:67648386..67651668hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg382815
hg192815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15930779, essv15930780, essv15930778
SamplesNA06984, HG03595, HG04235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642980
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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