A curated catalogue of human genomic structural variation




Variant Details

Variant: esv271270



Internal ID1793697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6271131..6271391hg19UCSC Ensembl
Outerchr10:6271095..6271427hg19UCSC Ensembl
Innerchr10:6311137..6311397hg18UCSC Ensembl
Outerchr10:6311101..6311433hg18UCSC Ensembl
Cytoband10p15.1
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 Variantsessv2576675, essv2552401, essv2532005, essv2561366, essv2529300, essv2534884, essv2553485, essv2554652, essv2539167, essv2521562, essv2556422, essv2571709, essv2568608, essv2549092, essv2538753, essv2559194, essv2561885, essv2565388
SamplesNA12154, NA18605, NA07037, NA18871, NA18561, NA18523, NA19108, NA19147, NA11840, NA18638, NA12144, NA12006, NA07346, NA18502, NA12749, NA12812, NA12874, NA18519
Known GenesPFKFB3
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)esv271270
Frequency
Sample Size157
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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