A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330087



Internal ID15177073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12979953..12981051hg38UCSC Ensembl
Innerchr18:12980051..12980953hg38UCSC Ensembl
Outerchr18:12978953..12982051hg38UCSC Ensembl
chr18:12979952..12981050hg19UCSC Ensembl
Innerchr18:12980050..12980952hg19UCSC Ensembl
Outerchr18:12978952..12982050hg19UCSC Ensembl
chr18:12969952..12971050hg18UCSC Ensembl
Innerchr18:12970952..12970050hg18UCSC Ensembl
Outerchr18:12968952..12972050hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691109
SamplesNA12878
Known GenesSEH1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330087
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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