A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628306



Internal ID6668449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136256..2148805hg38UCSC Ensembl
Innerchr12:2136256..2148805hg38UCSC Ensembl
Outerchr12:2135756..2149305hg38UCSC Ensembl
chr12:2245422..2257971hg19UCSC Ensembl
Innerchr12:2245422..2257971hg19UCSC Ensembl
Outerchr12:2244922..2258471hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812550
hg1912550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337263, essv14337278, essv14337330, essv14337254, essv14337233, essv14337318, essv14337245, essv14337255, essv14337293, essv14337326, essv14337295, essv14337269, essv14337247, essv14337282, essv14337231, essv14337264, essv14337284, essv14337305, essv14337234, essv14337310, essv14337287, essv14337253, essv14337291, essv14337250, essv14337331, essv14337246, essv14337309, essv14337219, essv14337229, essv14337251, essv14337315, essv14337260, essv14337286, essv14337290, essv14337281, essv14337302, essv14337268, essv14337314, essv14337258, essv14337242, essv14337267, essv14337311, essv14337325, essv14337292, essv14337248, essv14337320, essv14337236, essv14337227, essv14337279, essv14337261, essv14337317, essv14337224, essv14337307, essv14337218, essv14337288, essv14337301, essv14337306, essv14337215, essv14337299, essv14337271, essv14337232, essv14337257, essv14337276, essv14337240, essv14337216, essv14337332, essv14337221, essv14337259, essv14337226, essv14337304, essv14337280, essv14337228, essv14337213, essv14337308, essv14337249, essv14337313, essv14337273, essv14337275, essv14337319, essv14337272, essv14337230, essv14337235, essv14337316, essv14337274, essv14337297, essv14337277, essv14337327, essv14337237, essv14337243, essv14337239, essv14337289, essv14337285, essv14337217, essv14337241, essv14337283, essv14337225, essv14337256, essv14337300, essv14337252, essv14337214, essv14337324, essv14337298, essv14337270, essv14337294, essv14337322, essv14337329, essv14337303, essv14337328, essv14337266, essv14337312, essv14337323, essv14337223, essv14337321, essv14337238, essv14337296, essv14337212, essv14337262, essv14337222, essv14337265, essv14337220, essv14337244
SamplesHG01776, HG03755, NA11881, HG00734, NA12249, HG02657, HG04146, NA20351, NA20514, HG03668, NA19734, HG01612, HG01942, HG00127, HG00129, NA12347, HG01944, HG01777, HG01624, HG02260, NA19788, HG01528, HG02104, HG04183, NA21130, HG02146, HG02694, HG01954, NA19682, HG00366, HG00319, NA21120, HG03803, HG04038, HG03652, HG03955, NA19726, HG01982, HG01384, NA21108, HG01092, HG03779, NA12383, HG00337, NA20504, NA19792, HG03717, HG01785, HG00121, HG01124, HG03007, HG03793, NA20882, HG01707, HG03603, NA19681, NA19663, HG00114, NA12006, NA19676, HG00306, HG01111, NA12046, HG00108, NA20348, HG00382, NA12348, HG03649, NA12275, HG00260, HG03782, NA20822, HG00273, HG03740, NA12872, HG02147, HG00101, HG01494, HG00329, HG01070, HG02265, HG01933, NA10851, NA19729, NA12413, HG01269, HG02688, HG00138, HG03644, HG03913, NA12889, NA21087, HG01303, NA19747, NA18602, NA19649, NA21089, NA19740, NA11830, NA12003, HG01593, HG01947, NA19732, HG03640, HG03830, HG01498, HG00143, HG01678, NA19758, HG03826, HG01890, HG00278, HG03490, HG01980, NA19746, HG00381, HG01536, NA20863, HG00361, HG01198, HG03625
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628306
Frequency
Sample Size2504
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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