A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369841



Internal ID15216817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40319238..40344636hg38UCSC Ensembl
Innerchr9:40320238..40343636hg38UCSC Ensembl
Outerchr9:40318238..40345636hg38UCSC Ensembl
chr9:42464256..42489654hg19UCSC Ensembl
Innerchr9:42465256..42488654hg19UCSC Ensembl
Outerchr9:42463256..42490654hg19UCSC Ensembl
chr9:42454252..42479650hg18UCSC Ensembl
Innerchr9:42455252..42478650hg18UCSC Ensembl
Outerchr9:42453252..42480650hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3825399
hg1925399
hg1825399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4329e59
Supporting Variantsessv8696715
SamplesNA12878
Known GenesFAM95B1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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