A curated catalogue of human genomic structural variation




Variant Details

Variant: esv273406



Internal ID1809169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75231550..75231804hg19UCSC Ensembl
Outerchr9:75231512..75231842hg19UCSC Ensembl
Innerchr9:74421370..74421624hg18UCSC Ensembl
Outerchr9:74421332..74421662hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2584767, essv2583309
SamplesNA19239, NA19240
Known GenesTMC1
Method
AnalysisAnalysis structural variant merging of all supporting structural variant calls generated by type of computational approach: read pair mapping and split read alignment.
Platform454 GS FLX + Illumina Genome Analyzer II
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv273406
Frequency
Sample Size157
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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