A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306475



Internal ID15153423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:102516411..102516412hg38UCSC Ensembl
Innerchr9:102516321..102516502hg38UCSC Ensembl
Outerchr9:102516320..102516503hg38UCSC Ensembl
chr9:105278693..105278694hg19UCSC Ensembl
Innerchr9:105278603..105278784hg19UCSC Ensembl
Outerchr9:105278602..105278785hg19UCSC Ensembl
chr9:104318514..104318515hg18UCSC Ensembl
Innerchr9:104318605..104318424hg18UCSC Ensembl
Outerchr9:104318423..104318606hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747717, essv7749654, essv7744134
SamplesNA18510, NA19225, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306475
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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