A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348222



Internal ID15195204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62445055..62455853hg38UCSC Ensembl
Innerchr9:62446055..62454853hg38UCSC Ensembl
Outerchr9:62444055..62456853hg38UCSC Ensembl
chr9:46756356..46767154hg19UCSC Ensembl
Innerchr9:46757356..46766154hg19UCSC Ensembl
Outerchr9:46755356..46768154hg19UCSC Ensembl
chr9:46596352..46607150hg18UCSC Ensembl
Innerchr9:46597352..46606150hg18UCSC Ensembl
Outerchr9:46595352..46608150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3810799
hg1910799
hg1810799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4375e59
Supporting Variantsessv8696979
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348222
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