A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691389



Internal ID15062779
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 StatusS
Merged Variantsesv3344433
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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