A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9643014



Internal ID13246193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463869..32463888hg38UCSC Ensembl
Innerchr9:32463865..32463892hg38UCSC Ensembl
Outerchr9:32463846..32463911hg38UCSC Ensembl
chr9:32463867..32463886hg19UCSC Ensembl
Innerchr9:32463863..32463890hg19UCSC Ensembl
Outerchr9:32463844..32463909hg19UCSC Ensembl
chr9:32453867..32453886hg18UCSC Ensembl
Innerchr9:32453890..32453863hg18UCSC Ensembl
Outerchr9:32453844..32453909hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405462
Supporting Variants
SamplesNA12812
Known GenesDDX58
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9643014
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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