A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370082



Internal ID14870341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14487694..14487702hg38UCSC Ensembl
Innerchr11:14487677..14487719hg38UCSC Ensembl
Outerchr11:14487669..14487727hg38UCSC Ensembl
chr11:14509240..14509248hg19UCSC Ensembl
Innerchr11:14509223..14509265hg19UCSC Ensembl
Outerchr11:14509215..14509273hg19UCSC Ensembl
chr11:14465816..14465824hg18UCSC Ensembl
Innerchr11:14465841..14465799hg18UCSC Ensembl
Outerchr11:14465791..14465849hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865445
SamplesNA12005
Known GenesCOPB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370082
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer