A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268075



Internal ID1793811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169442979..169443224hg19UCSC Ensembl
Outerchr1:169442933..169443270hg19UCSC Ensembl
Innerchr1:167709603..167709848hg18UCSC Ensembl
Outerchr1:167709557..167709894hg18UCSC Ensembl
Cytoband1q24.2
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 Variantsessv2513771, essv2515801
SamplesNA18969, NA19143
Known GenesSLC19A2
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)esv268075
Frequency
Sample Size157
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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