A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308150



Internal ID15155098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48391528..48391529hg38UCSC Ensembl
Innerchr18:48391511..48391546hg38UCSC Ensembl
Outerchr18:48391510..48391547hg38UCSC Ensembl
chr18:45917899..45917900hg19UCSC Ensembl
Innerchr18:45917882..45917917hg19UCSC Ensembl
Outerchr18:45917881..45917918hg19UCSC Ensembl
chr18:44171897..44171898hg18UCSC Ensembl
Innerchr18:44171915..44171880hg18UCSC Ensembl
Outerchr18:44171879..44171916hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843051, essv7841734
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308150
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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