A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5515712



Internal ID9862398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69773385..69786143hg38UCSC Ensembl
Outerchr18:69773348..69786193hg38UCSC Ensembl
Innerchr18:67440621..67453379hg19UCSC Ensembl
Outerchr18:67440584..67453429hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3812846
hg1912846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675546
Supporting Variants
SamplesNA20532
Known GenesDOK6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5515712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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