A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15930773



Internal ID5932589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69875833..69889929hg38UCSC Ensembl
Innerchr18:69876333..69889429hg38UCSC Ensembl
Outerchr18:69874833..69890929hg38UCSC Ensembl
chr18:67543069..67557165hg19UCSC Ensembl
Innerchr18:67543569..67556665hg19UCSC Ensembl
Outerchr18:67542069..67558165hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3814097
hg1914097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642978
Supporting Variants
SamplesHG03061
Known GenesCD226
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15930773
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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