A curated catalogue of human genomic structural variation




Variant Details

Variant: esv273813



Internal ID1809066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61565919..61566156hg19UCSC Ensembl
Outerchr17:61565873..61566202hg19UCSC Ensembl
Innerchr17:58919651..58919888hg18UCSC Ensembl
Outerchr17:58919605..58919934hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv2581477
SamplesNA12878
Known GenesACE
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)esv273813
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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