A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378123



Internal ID15225096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17796246..17796406hg38UCSC Ensembl
Innerchr8:17796296..17796356hg38UCSC Ensembl
Outerchr8:17796196..17796456hg38UCSC Ensembl
chr8:17653755..17653915hg19UCSC Ensembl
Innerchr8:17653805..17653865hg19UCSC Ensembl
Outerchr8:17653705..17653965hg19UCSC Ensembl
chr8:17698035..17698195hg18UCSC Ensembl
Innerchr8:17698085..17698145hg18UCSC Ensembl
Outerchr8:17697985..17698245hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741331
SamplesNA19240
Known GenesMTUS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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