A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696522



Internal ID15057459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123971252..123974450hg38UCSC Ensembl
Innerchr9:123972252..123973450hg38UCSC Ensembl
Outerchr9:123970252..123975450hg38UCSC Ensembl
chr9:126733531..126736729hg19UCSC Ensembl
Innerchr9:126734531..126735729hg19UCSC Ensembl
Outerchr9:126732531..126737729hg19UCSC Ensembl
chr9:125773352..125776550hg18UCSC Ensembl
Innerchr9:125774352..125775550hg18UCSC Ensembl
Outerchr9:125772352..125777550hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3442030
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696522
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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