A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403252



Internal ID15250214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43793861..43793909hg38UCSC Ensembl
Innerchr18:43793875..43793893hg38UCSC Ensembl
Outerchr18:43793845..43793923hg38UCSC Ensembl
chr18:41373826..41373874hg19UCSC Ensembl
Innerchr18:41373840..41373858hg19UCSC Ensembl
Outerchr18:41373810..41373888hg19UCSC Ensembl
chr18:39627824..39627872hg18UCSC Ensembl
Innerchr18:39627838..39627856hg18UCSC Ensembl
Outerchr18:39627808..39627886hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8973405, essv8973406
SamplesNA18502, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403252
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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