A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696970



Internal ID13732295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62396255..62407353hg38UCSC Ensembl
Innerchr9:62397255..62406353hg38UCSC Ensembl
Outerchr9:62395255..62408353hg38UCSC Ensembl
chr9:46707556..46718654hg19UCSC Ensembl
Innerchr9:46708556..46717654hg19UCSC Ensembl
Outerchr9:46706556..46719654hg19UCSC Ensembl
chr9:46547552..46558650hg18UCSC Ensembl
Innerchr9:46548552..46557650hg18UCSC Ensembl
Outerchr9:46546552..46559650hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3811099
hg1911099
hg1811099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3435595
Supporting Variants
SamplesNA12892
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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