A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697219



Internal ID13663475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64463714..64468612hg38UCSC Ensembl
Innerchr9:64464714..64467612hg38UCSC Ensembl
Outerchr9:64462714..64469612hg38UCSC Ensembl
chr9:69476132..69481030hg19UCSC Ensembl
Innerchr9:69477132..69480030hg19UCSC Ensembl
Outerchr9:69475132..69482030hg19UCSC Ensembl
chr9:68765952..68770850hg18UCSC Ensembl
Innerchr9:68766952..68769850hg18UCSC Ensembl
Outerchr9:68764952..68771850hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3353568
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697219
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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