A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441653



Internal ID14941920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423639..31423645hg38UCSC Ensembl
Innerchr18:31423631..31423653hg38UCSC Ensembl
Outerchr18:31423623..31423659hg38UCSC Ensembl
chr18:29003602..29003608hg19UCSC Ensembl
Innerchr18:29003594..29003616hg19UCSC Ensembl
Outerchr18:29003586..29003622hg19UCSC Ensembl
chr18:27257600..27257606hg18UCSC Ensembl
Innerchr18:27257614..27257592hg18UCSC Ensembl
Outerchr18:27257584..27257620hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673547, essv8673549, essv8673550, essv8673551, essv8673548
SamplesNA19239, NA12892, NA19238, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441653
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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