A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400365



Internal ID15247328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68241316..68245214hg38UCSC Ensembl
Innerchr9:68242316..68244214hg38UCSC Ensembl
Outerchr9:68240316..68246214hg38UCSC Ensembl
chr9:70856232..70860130hg19UCSC Ensembl
Innerchr9:70857232..70859130hg19UCSC Ensembl
Outerchr9:70855232..70861130hg19UCSC Ensembl
chr9:70046052..70049950hg18UCSC Ensembl
Innerchr9:70047052..70048950hg18UCSC Ensembl
Outerchr9:70045052..70050950hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697374
SamplesNA19239
Known GenesCBWD3, CBWD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400365
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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