A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8973406



Internal ID14809601
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 StatusS
Merged Variantsesv3403252
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8973406
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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