A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691229



Internal ID15061147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50141784..50142882hg38UCSC Ensembl
Innerchr18:50141882..50142784hg38UCSC Ensembl
Outerchr18:50140784..50143882hg38UCSC Ensembl
chr18:47668154..47669252hg19UCSC Ensembl
Innerchr18:47668252..47669154hg19UCSC Ensembl
Outerchr18:47667154..47670252hg19UCSC Ensembl
chr18:45922152..45923250hg18UCSC Ensembl
Innerchr18:45923152..45922250hg18UCSC Ensembl
Outerchr18:45921152..45924250hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370146
Supporting Variants
SamplesNA19239
Known GenesMYO5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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