A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389066



Internal ID14889347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2786582..2786593hg38UCSC Ensembl
Innerchr11:2786584..2786591hg38UCSC Ensembl
Outerchr11:2786580..2786595hg38UCSC Ensembl
chr11:2807812..2807823hg19UCSC Ensembl
Innerchr11:2807814..2807821hg19UCSC Ensembl
Outerchr11:2807810..2807825hg19UCSC Ensembl
chr11:2764388..2764399hg18UCSC Ensembl
Innerchr11:2764390..2764397hg18UCSC Ensembl
Outerchr11:2764386..2764401hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865432
SamplesNA12005
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389066
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