A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268348



Internal ID1794517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:144339226..144339233hg19UCSC Ensembl
Outerchr6:144339187..144339272hg19UCSC Ensembl
Innerchr6:144380926..144380919hg18UCSC Ensembl
Outerchr6:144380880..144380965hg18UCSC Ensembl
Cytoband6q24.2
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 Variantsessv2517487
SamplesNA11918
Known GenesPLAGL1
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)esv268348
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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