A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268820



Internal ID1790142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40673030..40673286hg19UCSC Ensembl
Outerchr12:40672994..40673322hg19UCSC Ensembl
Innerchr12:38959297..38959553hg18UCSC Ensembl
Outerchr12:38959261..38959589hg18UCSC Ensembl
Cytoband12q12
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 Variantsessv2526893, essv2541128, essv2574141, essv2528419, essv2540767, essv2535825, essv2551053, essv2538521, essv2543404, essv2535989, essv2533395, essv2539417, essv2521037, essv2550013, essv2544541, essv2559169, essv2548920, essv2520443, essv2572678, essv2522022, essv2570630, essv2537895, essv2553827, essv2572590, essv2524221, essv2534983, essv2534232, essv2556611, essv2547202, essv2530715, essv2552241, essv2557006, essv2567367, essv2566234, essv2562944, essv2546444, essv2521797, essv2529815, essv2569039, essv2533560, essv2528934, essv2577720, essv2568589, essv2577621, essv2576413, essv2536478, essv2543919, essv2564774, essv2571484, essv2555773, essv2575177, essv2539721, essv2558644, essv2519593, essv2565467, essv2565076, essv2575646, essv2562682, essv2541944, essv2565670, essv2566481, essv2542325, essv2553390, essv2552983, essv2563584, essv2563126, essv2554929, essv2562281, essv2552413, essv2561656, essv2544756, essv2557381, essv2551340, essv2558232, essv2561945, essv2571832, essv2548583, essv2538347, essv2527550, essv2556007, essv2540294, essv2570266, essv2531013, essv2569587
SamplesNA11881, NA18870, NA12043, NA12489, NA12249, NA18861, NA18605, NA12750, NA07037, NA18523, NA18952, NA11920, NA18501, NA19093, NA18526, NA18511, NA10847, NA18545, NA18603, NA18948, NA18573, NA18608, NA18542, NA18507, NA07051, NA19257, NA19108, NA12044, NA19147, NA19143, NA12414, NA11919, NA12763, NA18912, NA18508, NA11840, NA18566, NA11994, NA18563, NA12873, NA12814, NA18856, NA12761, NA18638, NA18956, NA18959, NA18609, NA18547, NA11831, NA11894, NA18593, NA12144, NA12751, NA12716, NA19129, NA18572, NA19102, NA06986, NA19238, NA19005, NA18502, NA18558, NA12872, NA18858, NA18579, NA18945, NA12891, NA10851, NA18582, NA18552, NA18909, NA12812, NA19099, NA11992, NA18944, NA18499, NA18571, NA12045, NA11829, NA19240, NA12717, NA12874, NA18532, NA07000
Known GenesLRRK2
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)esv268820
Frequency
Sample Size157
Observed Gain84
Observed Loss0
Observed Complex0
Frequencyn/a


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