A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628356



Internal ID6668499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4279530..4280115hg38UCSC Ensembl
Innerchr12:4279545..4280101hg38UCSC Ensembl
Outerchr12:4279516..4280130hg38UCSC Ensembl
chr12:4388696..4389281hg19UCSC Ensembl
Innerchr12:4388711..4389267hg19UCSC Ensembl
Outerchr12:4388682..4389296hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14340373, essv14340436, essv14340330, essv14340456, essv14340364, essv14340285, essv14340262, essv14340434, essv14340379, essv14340428, essv14340335, essv14340277, essv14340492, essv14340464, essv14340251, essv14340403, essv14340320, essv14340354, essv14340474, essv14340437, essv14340300, essv14340336, essv14340387, essv14340431, essv14340477, essv14340233, essv14340340, essv14340337, essv14340238, essv14340485, essv14340443, essv14340356, essv14340433, essv14340360, essv14340426, essv14340223, essv14340279, essv14340441, essv14340457, essv14340242, essv14340491, essv14340321, essv14340332, essv14340363, essv14340407, essv14340268, essv14340432, essv14340286, essv14340490, essv14340479, essv14340289, essv14340301, essv14340333, essv14340348, essv14340254, essv14340397, essv14340245, essv14340339, essv14340244, essv14340303, essv14340470, essv14340319, essv14340361, essv14340395, essv14340483, essv14340420, essv14340444, essv14340312, essv14340235, essv14340358, essv14340471, essv14340249, essv14340272, essv14340294, essv14340414, essv14340401, essv14340317, essv14340385, essv14340462, essv14340258, essv14340314, essv14340295, essv14340372, essv14340380, essv14340412, essv14340451, essv14340486, essv14340224, essv14340439, essv14340350, essv14340461, essv14340228, essv14340427, essv14340469, essv14340494, essv14340276, essv14340334, essv14340229, essv14340352, essv14340328, essv14340362, essv14340325, essv14340390, essv14340270, essv14340497, essv14340408, essv14340473, essv14340371, essv14340386, essv14340259, essv14340496, essv14340256, essv14340357, essv14340355, essv14340307, essv14340359, essv14340453, essv14340287, essv14340402, essv14340309, essv14340388, essv14340446, essv14340298, essv14340344, essv14340480, essv14340225, essv14340442, essv14340488, essv14340421, essv14340338, essv14340478, essv14340310, essv14340466, essv14340382, essv14340455, essv14340282, essv14340411, essv14340230, essv14340241, essv14340243, essv14340292, essv14340396, essv14340398, essv14340415, essv14340409, essv14340450, essv14340232, essv14340476, essv14340484, essv14340273, essv14340299, essv14340487, essv14340274, essv14340323, essv14340440, essv14340267, essv14340449, essv14340313, essv14340460, essv14340383, essv14340304, essv14340430, essv14340376, essv14340489, essv14340374, essv14340392, essv14340261, essv14340281, essv14340424, essv14340253, essv14340369, essv14340308, essv14340275, essv14340416, essv14340481, essv14340349, essv14340454, essv14340237, essv14340413, essv14340468, essv14340239, essv14340406, essv14340342, essv14340472, essv14340226, essv14340365, essv14340381, essv14340493, essv14340318, essv14340425, essv14340240, essv14340257, essv14340250, essv14340311, essv14340341, essv14340297, essv14340252, essv14340351, essv14340291, essv14340305, essv14340248, essv14340429, essv14340410, essv14340260, essv14340399, essv14340222, essv14340367, essv14340467, essv14340458, essv14340306, essv14340315, essv14340236, essv14340389, essv14340280, essv14340404, essv14340423, essv14340368, essv14340264, essv14340288, essv14340346, essv14340343, essv14340447, essv14340378, essv14340269, essv14340465, essv14340266, essv14340293, essv14340331, essv14340327, essv14340463, essv14340227, essv14340283, essv14340324, essv14340417, essv14340394, essv14340495, essv14340322, essv14340393, essv14340448, essv14340345, essv14340375, essv14340296, essv14340329, essv14340290, essv14340422, essv14340326, essv14340265, essv14340353, essv14340247, essv14340284, essv14340459, essv14340255, essv14340384, essv14340419, essv14340482, essv14340231, essv14340302, essv14340377, essv14340405, essv14340438, essv14340263, essv14340316, essv14340234, essv14340391, essv14340452, essv14340475, essv14340271, essv14340278, essv14340246, essv14340347, essv14340366, essv14340435, essv14340400, essv14340445, essv14340418, essv14340370
SamplesHG02140, HG00613, HG01878, HG02107, HG03015, HG03705, HG02166, HG03760, NA18595, HG02649, HG00619, HG01811, HG03729, HG03985, NA18561, NA19404, HG00129, HG03744, HG00705, HG01873, NA18966, NA21114, HG02407, HG01859, HG01882, NA18612, HG00464, NA18501, HG03874, HG01858, HG02549, HG03741, HG01849, HG02513, HG02734, HG04096, NA18639, NA18603, HG02139, HG00463, HG02943, HG00657, HG03969, HG00614, HG01850, HG04090, HG02048, NA21133, HG04026, NA21124, HG03829, NA18947, HG03653, NA20321, HG02029, NA18542, HG02379, NA18541, HG02375, HG02694, HG04118, NA20900, HG00698, HG02389, NA18994, HG01029, HG04001, HG03967, HG04180, NA20763, HG01861, HG04214, HG03928, HG03960, HG02685, HG03949, HG04152, HG02433, HG03808, HG03947, HG04140, NA18943, HG03863, NA18626, NA18632, HG00266, NA19077, HG02402, HG04238, NA18559, HG04219, HG00556, HG02390, NA20856, NA18979, NA20885, NA18627, HG02654, HG00421, HG03779, NA19057, NA20811, HG02121, NA18536, NA18622, NA18618, HG02142, NA20504, HG03686, NA19722, HG00610, HG01061, NA18641, NA18990, HG00692, HG01495, HG02658, NA18991, HG03898, HG03911, HG04198, NA18636, HG03770, HG03926, NA18876, HG01396, NA18959, HG00150, HG01556, NA18609, NA20882, HG00419, NA18547, NA18976, HG02028, NA18637, HG00451, HG04222, HG00634, HG03604, HG03917, HG04063, HG00254, HG03864, NA19679, HG03595, HG00407, NA18643, NA19086, NA20589, HG03971, NA18539, HG03895, HG01497, HG00436, HG02058, HG03869, HG02236, HG03773, NA21122, HG00267, HG00620, HG03786, NA21143, NA18645, HG00653, NA18954, NA21128, NA20126, HG03995, NA06985, NA18939, HG00629, HG03914, HG03870, NA20910, NA19005, NA18558, NA18977, HG03931, NA18749, HG04062, HG02429, NA20878, HG03788, HG02087, NA20542, HG02364, HG00105, HG00525, NA18562, HG01894, NA18579, HG00729, HG03228, HG03692, HG02180, HG02690, HG02085, HG02374, NA18543, NA18940, NA18619, NA18987, HG01566, HG01809, HG03691, HG02491, HG00443, HG02067, NA18599, HG00611, HG03789, HG02182, NA20827, HG02238, HG02134, HG03694, NA18565, HG03771, NA21109, HG02035, NA18989, NA18544, HG03815, NA18602, HG02186, HG00654, HG02079, HG03905, HG03708, NA20513, HG03594, HG04039, HG01593, HG00238, HG00422, HG01855, HG03718, NA18610, HG02353, NA18611, HG02522, HG03830, HG03838, HG03850, HG03802, NA18574, HG00442, HG00473, NA18981, NA19079, HG04171, HG02784, HG03720, HG00476, HG03826, NA20772, HG01869, HG02064, HG03907, HG03490, HG03991, NA19065, NA20899, NA12775, NA18553, HG01870, HG03963, NA12718, HG01813, HG00734, HG04146, NA12750, HG02165, HG02184
Known GenesCCND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628356
Frequency
Sample Size2504
Observed Gain0
Observed Loss276
Observed Complex0
Frequencyn/a


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