A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272654



Internal ID1810518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89219405..89219648hg19UCSC Ensembl
Outerchr1:89219369..89219684hg19UCSC Ensembl
Innerchr1:88991993..88992236hg18UCSC Ensembl
Outerchr1:88991957..88992272hg18UCSC Ensembl
Cytoband1p22.2
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 Variantsessv2581886, essv2583967, essv2583742, essv2583219, essv2584631
SamplesNA19239, NA12892, NA19238, NA12878, NA19240
Known GenesPKN2
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)esv272654
Frequency
Sample Size157
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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