A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15894277



Internal ID5766180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58808344..58809147hg38UCSC Ensembl
Innerchr18:58808372..58809120hg38UCSC Ensembl
Outerchr18:58808317..58809175hg38UCSC Ensembl
chr18:56475576..56476379hg19UCSC Ensembl
Innerchr18:56475604..56476352hg19UCSC Ensembl
Outerchr18:56475549..56476407hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642652
Supporting Variants
SamplesNA19137
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15894277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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