A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642975



Internal ID7029744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69773267..69786062hg38UCSC Ensembl
Innerchr18:69773294..69786035hg38UCSC Ensembl
Outerchr18:69773240..69786089hg38UCSC Ensembl
chr18:67440503..67453298hg19UCSC Ensembl
Innerchr18:67440530..67453271hg19UCSC Ensembl
Outerchr18:67440476..67453325hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3812796
hg1912796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15930657, essv15930658, essv15930656
SamplesNA20532, NA06984, HG03061
Known GenesDOK6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642975
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer