A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15819528



Internal ID5337922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22474178..22487308hg38UCSC Ensembl
Innerchr18:22474259..22487151hg38UCSC Ensembl
Outerchr18:22473976..22487510hg38UCSC Ensembl
chr18:20054141..20067271hg19UCSC Ensembl
Innerchr18:20054222..20067114hg19UCSC Ensembl
Outerchr18:20053939..20067473hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3813131
hg1913131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641958
Supporting Variants
SamplesNA18874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15819528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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