A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697421



Internal ID15062182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90693750..90695048hg38UCSC Ensembl
Innerchr9:90694048..90694750hg38UCSC Ensembl
Outerchr9:90692750..90696048hg38UCSC Ensembl
chr9:93456032..93457330hg19UCSC Ensembl
Innerchr9:93456330..93457032hg19UCSC Ensembl
Outerchr9:93455032..93458330hg19UCSC Ensembl
chr9:92495852..92497150hg18UCSC Ensembl
Innerchr9:92496852..92496150hg18UCSC Ensembl
Outerchr9:92494852..92498150hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394786
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697421
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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