A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662154



Internal ID9581573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17381792..17385790hg38UCSC Ensembl
chr16:17475649..17479647hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv482e199
Supporting Variantsessv5626527, essv5891593, essv5974595, essv5685387, essv6378336, essv5845079
SamplesNA18570, NA19108, NA18965, NA18537, NA18858, NA12891
Known GenesXYLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662154
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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