A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660112



Internal ID9579531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154108426..154112185hg38UCSC Ensembl
chr1:154080902..154084661hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383760
hg193760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6471419, essv6004178, essv5722597, essv6455302, essv5483776, essv6589988, essv6567087, essv6552937, essv6509453, essv6216304, essv6209895, essv6458013, essv5461317, essv5613897, essv5536377, essv5935287, essv6432443, essv6223970, essv6465208, essv6443076, essv5486586
SamplesNA18861, NA19114, NA18874, NA19311, NA18507, NA19108, NA19474, NA19914, NA18912, NA18508, HG00638, NA18916, NA19681, NA19457, NA19324, NA19190, NA18858, NA19347, NA19403, NA19399, NA18499
Known GenesNUP210L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660112
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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