A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304149



Internal ID14804411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59152232..59152233hg38UCSC Ensembl
Innerchr18:59152207..59152258hg38UCSC Ensembl
Outerchr18:59152206..59152259hg38UCSC Ensembl
chr18:56819464..56819465hg19UCSC Ensembl
Innerchr18:56819439..56819490hg19UCSC Ensembl
Outerchr18:56819438..56819491hg19UCSC Ensembl
chr18:54970444..54970445hg18UCSC Ensembl
Innerchr18:54970470..54970419hg18UCSC Ensembl
Outerchr18:54970418..54970471hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758886, essv7761859, essv7755862, essv7748061, essv7755681, essv7743645, essv7756203, essv7749845, essv7749253, essv7748599, essv7749481, essv7756426, essv7751786, essv7755294, essv7744269, essv7752985, essv7762794
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)esv3304149
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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