A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344433



Internal ID15191417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8950254..8952252hg38UCSC Ensembl
Innerchr18:8951252..8951254hg38UCSC Ensembl
Outerchr18:8949254..8953252hg38UCSC Ensembl
chr18:8950252..8952250hg19UCSC Ensembl
Innerchr18:8951250..8951252hg19UCSC Ensembl
Outerchr18:8949252..8953250hg19UCSC Ensembl
chr18:8940252..8942250hg18UCSC Ensembl
Innerchr18:8941252..8941250hg18UCSC Ensembl
Outerchr18:8939252..8943250hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691389
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344433
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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