A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696968



Internal ID13660951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62381455..62387153hg38UCSC Ensembl
Innerchr9:62382455..62386153hg38UCSC Ensembl
Outerchr9:62380455..62388153hg38UCSC Ensembl
chr9:46692756..46698454hg19UCSC Ensembl
Innerchr9:46693756..46697454hg19UCSC Ensembl
Outerchr9:46691756..46699454hg19UCSC Ensembl
chr9:46532752..46538450hg18UCSC Ensembl
Innerchr9:46533752..46537450hg18UCSC Ensembl
Outerchr9:46531752..46539450hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385699
hg195699
hg185699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434758
Supporting Variants
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696968
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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