A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270563



Internal ID1790179
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 StatusM
Merged Variants
Supporting Variantsessv2513858, essv2515646, essv2515019, essv2517608, essv2518972, essv2516778, essv2516364, essv2514402, essv2517449
SamplesNA11881, NA11918, NA12815, NA19143, NA12814, NA19141, NA12812, NA12878, NA12874
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)esv270563
Frequency
Sample Size157
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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