A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425547



Internal ID15272504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9057992..9058085hg38UCSC Ensembl
Innerchr18:9058015..9058060hg38UCSC Ensembl
Outerchr18:9057967..9058108hg38UCSC Ensembl
chr18:9057990..9058083hg19UCSC Ensembl
Innerchr18:9058013..9058058hg19UCSC Ensembl
Outerchr18:9057965..9058106hg19UCSC Ensembl
chr18:9047990..9048083hg18UCSC Ensembl
Innerchr18:9048013..9048058hg18UCSC Ensembl
Outerchr18:9047965..9048106hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670793, essv8670794, essv8670795
SamplesNA19238, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425547
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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