A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414068



Internal ID15261027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63198039..63199837hg38UCSC Ensembl
Innerchr18:63198837..63199039hg38UCSC Ensembl
Outerchr18:63197039..63200837hg38UCSC Ensembl
chr18:60865272..60867070hg19UCSC Ensembl
Innerchr18:60866070..60866272hg19UCSC Ensembl
Outerchr18:60864272..60868070hg19UCSC Ensembl
chr18:59016252..59018050hg18UCSC Ensembl
Innerchr18:59017252..59017050hg18UCSC Ensembl
Outerchr18:59015252..59019050hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691266
SamplesNA19238
Known GenesBCL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414068
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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