A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270375



Internal ID1790274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:124039965..124039965hg19UCSC Ensembl
Outerchr9:124039905..124040025hg19UCSC Ensembl
Innerchr9:123079786..123079786hg18UCSC Ensembl
Outerchr9:123079726..123079846hg18UCSC Ensembl
Cytoband9q33.2
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 Variantsessv2503585, essv2498380, essv2511067, essv2500148, essv2510569, essv2508164, essv2499910, essv2495209, essv2502424, essv2497969, essv2512897
SamplesNA18964, NA18501, NA18526, NA18948, NA18573, NA18609, NA06986, NA18562, NA18579, NA18945, NA18944
Known GenesGSN
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)esv270375
Frequency
Sample Size157
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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