A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271909



Internal ID1791725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75231554..75231800hg19UCSC Ensembl
Outerchr9:75231508..75231846hg19UCSC Ensembl
Innerchr9:74421374..74421620hg18UCSC Ensembl
Outerchr9:74421328..74421666hg18UCSC 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 Variantsessv2513992, essv2517785, essv2518947, essv2515527, essv2516275, essv2516860, essv2517078, essv2514869
SamplesNA12815, NA11931, NA19143, NA19239, NA12234, NA12892, NA12891, NA12878
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)esv271909
Frequency
Sample Size157
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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