A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268022



Internal ID1794800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88859236..88859302hg19UCSC Ensembl
Outerchr14:88859154..88859384hg19UCSC Ensembl
Innerchr14:87928989..87929055hg18UCSC Ensembl
Outerchr14:87928907..87929137hg18UCSC Ensembl
Cytoband14q31.3
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 Variantsessv2498149, essv2494743, essv2501867, essv2497045, essv2509037
SamplesNA19239, NA19190, NA18522, NA19240, NA18519
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)esv268022
Frequency
Sample Size157
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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