A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368278



Internal ID15215254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58755649..58755700hg38UCSC Ensembl
Innerchr18:58755619..58755730hg38UCSC Ensembl
Outerchr18:58755568..58755781hg38UCSC Ensembl
chr18:56422881..56422932hg19UCSC Ensembl
Innerchr18:56422851..56422962hg19UCSC Ensembl
Outerchr18:56422800..56423013hg19UCSC Ensembl
chr18:54573861..54573912hg18UCSC Ensembl
Innerchr18:54573942..54573831hg18UCSC Ensembl
Outerchr18:54573780..54573993hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863477, essv7863478
SamplesNA11992, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368278
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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