A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402573



Internal ID14902849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59152231..59152236hg38UCSC Ensembl
Innerchr18:59152224..59152243hg38UCSC Ensembl
Outerchr18:59152219..59152248hg38UCSC Ensembl
chr18:56819463..56819468hg19UCSC Ensembl
Innerchr18:56819456..56819475hg19UCSC Ensembl
Outerchr18:56819451..56819480hg19UCSC Ensembl
chr18:54970443..54970448hg18UCSC Ensembl
Innerchr18:54970455..54970436hg18UCSC Ensembl
Outerchr18:54970431..54970460hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8973822, essv8973807, essv8973815, essv8973811, essv8973820, essv8973819, essv8973808, essv8973824, essv8973810, essv8973813, essv8973821, essv8973818, essv8973809, essv8973823, essv8973812, essv8973817, essv8973816
SamplesNA18870, NA18510, NA12155, NA10847, NA18516, NA18537, NA18566, NA18856, NA18912, NA11881, NA19108, NA18961, NA19093, NA19102, NA18505, NA19129, NA18562
Known GenesSEC11C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402573
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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