A curated catalogue of human genomic structural variation




Variant Details

Variant: esv273157



Internal ID1810183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88853766..88854005hg19UCSC Ensembl
Outerchr14:88853710..88854061hg19UCSC Ensembl
Innerchr14:87923519..87923758hg18UCSC Ensembl
Outerchr14:87923463..87923814hg18UCSC Ensembl
Cytoband14q31.3
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 Variantsessv2578888
SamplesNA19239
Known GenesSPATA7
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)esv273157
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer