A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308324



Internal ID15155272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44241051..44241052hg38UCSC Ensembl
Innerchr18:44241021..44241082hg38UCSC Ensembl
Outerchr18:44241020..44241083hg38UCSC Ensembl
chr18:41821016..41821017hg19UCSC Ensembl
Innerchr18:41820986..41821047hg19UCSC Ensembl
Outerchr18:41820985..41821048hg19UCSC Ensembl
chr18:40075014..40075015hg18UCSC Ensembl
Innerchr18:40075045..40074984hg18UCSC Ensembl
Outerchr18:40074983..40075046hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837902, essv7838135, essv7837704, essv7838529, essv7837133
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308324
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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