A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15835399



Internal ID6736615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30628492..30633669hg38UCSC Ensembl
Innerchr18:30628551..30633610hg38UCSC Ensembl
Outerchr18:30628433..30633728hg38UCSC Ensembl
chr18:28208458..28213635hg19UCSC Ensembl
Innerchr18:28208517..28213576hg19UCSC Ensembl
Outerchr18:28208399..28213694hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385178
hg195178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642111
Supporting Variants
SamplesNA20858
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15835399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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