A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666240



Internal ID9932345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13778460..13782413hg38UCSC Ensembl
Outerchr18:13778423..13782463hg38UCSC Ensembl
Innerchr18:13778459..13782412hg19UCSC Ensembl
Outerchr18:13778422..13782462hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384041
hg194041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6346221, essv5490709
SamplesNA19452, NA19401
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666240
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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