A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335331



Internal ID15182321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120158745..120158802hg38UCSC Ensembl
Innerchr9:120158772..120158775hg38UCSC Ensembl
Outerchr9:120158715..120158832hg38UCSC Ensembl
chr9:122921023..122921080hg19UCSC Ensembl
Innerchr9:122921050..122921053hg19UCSC Ensembl
Outerchr9:122920993..122921110hg19UCSC Ensembl
chr9:121960844..121960901hg18UCSC Ensembl
Innerchr9:121960874..121960871hg18UCSC Ensembl
Outerchr9:121960814..121960931hg18UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8946190
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335331
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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