A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270672



Internal ID1790505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89247129..89247144hg19UCSC Ensembl
Outerchr1:89247067..89247206hg19UCSC Ensembl
Innerchr1:89019717..89019732hg18UCSC Ensembl
Outerchr1:89019655..89019794hg18UCSC 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 Variantsessv2511977, essv2511881, essv2498930, essv2513290, essv2501391, essv2493608, essv2495700, essv2506887, essv2506578, essv2501946, essv2496214
SamplesNA19093, NA18511, NA18517, NA19108, NA19239, NA18916, NA19102, NA19238, NA19138, NA18907, NA18499
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)esv270672
Frequency
Sample Size157
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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