A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360891



Internal ID14861152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33797427..33797446hg38UCSC Ensembl
Innerchr5:33797423..33797450hg38UCSC Ensembl
Outerchr5:33797404..33797469hg38UCSC Ensembl
chr5:33797532..33797551hg19UCSC Ensembl
Innerchr5:33797528..33797555hg19UCSC Ensembl
Outerchr5:33797509..33797574hg19UCSC Ensembl
chr5:33833289..33833308hg18UCSC Ensembl
Innerchr5:33833312..33833285hg18UCSC Ensembl
Outerchr5:33833266..33833331hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678989
SamplesNA12878
Known GenesADAMTS12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360891
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