A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642963



Internal ID7029732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69366139..69380880hg38UCSC Ensembl
Innerchr18:69366139..69380880hg38UCSC Ensembl
Outerchr18:69365639..69381380hg38UCSC Ensembl
chr18:67033375..67048116hg19UCSC Ensembl
Innerchr18:67033375..67048116hg19UCSC Ensembl
Outerchr18:67032875..67048616hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3814742
hg1914742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15927371, essv15927370
SamplesNA18969, HG03061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642963
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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