A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15838109



Internal ID4928979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32552511..32559718hg38UCSC Ensembl
Innerchr18:32552511..32559718hg38UCSC Ensembl
Outerchr18:32552324..32559774hg38UCSC Ensembl
chr18:30132474..30139681hg19UCSC Ensembl
Innerchr18:30132474..30139681hg19UCSC Ensembl
Outerchr18:30132287..30139737hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg387208
hg197208
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642156
Supporting Variants
SamplesNA12763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15838109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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