A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696967



Internal ID13660945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62371855..62377853hg38UCSC Ensembl
Innerchr9:62372855..62376853hg38UCSC Ensembl
Outerchr9:62370855..62378853hg38UCSC Ensembl
chr9:46683156..46689154hg19UCSC Ensembl
Innerchr9:46684156..46688154hg19UCSC Ensembl
Outerchr9:46682156..46690154hg19UCSC Ensembl
chr9:46523152..46529150hg18UCSC Ensembl
Innerchr9:46524152..46528150hg18UCSC Ensembl
Outerchr9:46522152..46530150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3336000
Supporting Variants
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696967
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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