A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308534



Internal ID14808797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423637..31423638hg38UCSC Ensembl
Innerchr18:31423612..31423663hg38UCSC Ensembl
Outerchr18:31423611..31423664hg38UCSC Ensembl
chr18:29003600..29003601hg19UCSC Ensembl
Innerchr18:29003575..29003626hg19UCSC Ensembl
Outerchr18:29003574..29003627hg19UCSC Ensembl
chr18:27257598..27257599hg18UCSC Ensembl
Innerchr18:27257624..27257573hg18UCSC Ensembl
Outerchr18:27257572..27257625hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837979, essv7838255, essv7838164
SamplesNA12892, NA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308534
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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