A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678223



Internal ID9944328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18379698..18385462hg38UCSC Ensembl
chr11:18401245..18407009hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg385765
hg195765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6095121, essv6020891, essv5478025, essv5793744
SamplesNA18486, NA19443, NA19213, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678223
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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