A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274613



Internal ID1808458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40760199..40760206hg19UCSC Ensembl
Outerchr12:40760160..40760245hg19UCSC Ensembl
Innerchr12:39046473..39046466hg18UCSC Ensembl
Outerchr12:39046427..39046512hg18UCSC Ensembl
Cytoband12q12
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 Variantsessv2581628
SamplesNA12878
Known GenesLRRK2
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)esv274613
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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