A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450920



Internal ID15297867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70038212..70038212hg38UCSC Ensembl
Innerchr9:70038211..70038213hg38UCSC Ensembl
Outerchr9:70038152..70038262hg38UCSC Ensembl
chr9:72653128..72653128hg19UCSC Ensembl
Innerchr9:72653127..72653129hg19UCSC Ensembl
Outerchr9:72653068..72653178hg19UCSC Ensembl
chr9:71842948..71842948hg18UCSC Ensembl
Innerchr9:71842949..71842947hg18UCSC Ensembl
Outerchr9:71842888..71842998hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8845143
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450920
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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