A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272267



Internal ID1808105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89247010..89247141hg19UCSC Ensembl
Outerchr1:89246895..89247256hg19UCSC Ensembl
Innerchr1:89019729..89019598hg18UCSC Ensembl
Outerchr1:89019483..89019844hg18UCSC 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 Variantsessv2579012, essv2580828, essv2579718
SamplesNA19239, NA19238, 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)esv272267
Frequency
Sample Size157
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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