A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336754



Internal ID15183742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59539209..59539216hg38UCSC Ensembl
Innerchr18:59539211..59539214hg38UCSC Ensembl
Outerchr18:59539207..59539218hg38UCSC Ensembl
chr18:57206441..57206448hg19UCSC Ensembl
Innerchr18:57206443..57206446hg19UCSC Ensembl
Outerchr18:57206439..57206450hg19UCSC Ensembl
chr18:55357421..55357428hg18UCSC Ensembl
Innerchr18:55357423..55357426hg18UCSC Ensembl
Outerchr18:55357419..55357430hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866041, essv7866040
SamplesNA12005, NA18871
Known GenesCCBE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336754
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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