A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8649845



Internal ID14793905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69212974..69212974hg38UCSC Ensembl
Innerchr9:69212973..69212975hg38UCSC Ensembl
Outerchr9:69212934..69212994hg38UCSC Ensembl
chr9:71827890..71827890hg19UCSC Ensembl
Innerchr9:71827889..71827891hg19UCSC Ensembl
Outerchr9:71827850..71827910hg19UCSC Ensembl
chr9:71017710..71017710hg18UCSC Ensembl
Innerchr9:71017711..71017709hg18UCSC Ensembl
Outerchr9:71017670..71017730hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365713
Supporting Variants
Samples
Known GenesTJP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8649845
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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