A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697185



Internal ID13707157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40937703..41002301hg38UCSC Ensembl
Innerchr9:40938703..41001301hg38UCSC Ensembl
Outerchr9:40936703..41003301hg38UCSC Ensembl
chr9:69010932..69075530hg19UCSC Ensembl
Innerchr9:69011932..69074530hg19UCSC Ensembl
Outerchr9:69009932..69076530hg19UCSC Ensembl
chr9:68300752..68365350hg18UCSC Ensembl
Innerchr9:68301752..68364350hg18UCSC Ensembl
Outerchr9:68299752..68366350hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3864599
hg1964599
hg1864599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3418263
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697185
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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