A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15829057



Internal ID2392544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28391870..28396585hg38UCSC Ensembl
Innerchr18:28391878..28396577hg38UCSC Ensembl
Outerchr18:28391862..28396593hg38UCSC Ensembl
chr18:25971834..25976549hg19UCSC Ensembl
Innerchr18:25971842..25976541hg19UCSC Ensembl
Outerchr18:25971826..25976557hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384716
hg194716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642055
Supporting Variants
SamplesHG02122
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15829057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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