A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15836509



Internal ID2093002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31191367..31195961hg38UCSC Ensembl
Innerchr18:31191368..31195961hg38UCSC Ensembl
Outerchr18:31191367..31195962hg38UCSC Ensembl
chr18:28771330..28775924hg19UCSC Ensembl
Innerchr18:28771331..28775924hg19UCSC Ensembl
Outerchr18:28771330..28775925hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384595
hg194595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642120
Supporting Variants
SamplesHG01896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15836509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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