A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761533



Internal ID10028886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225647..19959454hg38UCSC Ensembl
Innerchr14:19002124..20427613hg19UCSC Ensembl
Innerchr14:18072124..19497453hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381733808
hg191425490
hg181425330
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33e203
Supporting Variantsessv6998296, essv6998424, essv6998409, essv6998270, essv6998413, essv6998308, essv6998373, essv6998279, essv6998402, essv6998340, essv6998282, essv6998354, essv6998389, essv6998371, essv6998327, essv6998284, essv6998346, essv6998334, essv6998363, essv6998383, essv6998287, essv6998303, essv6998336, essv6998360, essv6998418, essv6998339, essv6998352, essv6998423, essv6998274, essv6998426, essv6998372, essv6998398, essv6998341, essv6998397, essv6998353, essv6998348, essv6998271, essv6998431, essv6998345, essv6998425, essv6998312, essv6998317, essv6998330, essv6998295, essv6998429, essv6998260, essv6998328, essv6998404, essv6998309, essv6998305, essv6998273, essv6998394, essv6998275, essv6998290, essv6998432, essv6998258, essv6998269, essv6998316, essv6998323, essv6998307, essv6998384, essv6998292, essv6998302, essv6998285, essv6998405, essv6998421, essv6998335, essv6998329, essv6998382, essv6998350, essv6998427, essv6998417, essv6998351, essv6998357, essv6998392, essv6998391, essv6998313, essv6998381, essv6998293, essv6998406, essv6998403, essv6998310, essv6998375, essv6998401, essv6998347, essv6998338, essv6998365, essv6998283, essv6998263, essv6998428, essv6998430, essv6998370, essv6998356, essv6998267, essv6998380, essv6998416, essv6998387, essv6998297, essv6998390, essv6998291, essv6998315, essv6998415, essv6998378, essv6998314, essv6998436, essv6998359, essv6998435, essv6998364, essv6998362, essv6998326, essv6998278, essv6998358, essv6998286, essv6998395, essv6998318, essv6998294, essv6998408, essv6998393, essv6998272, essv6998368, essv6998298, essv6998407, essv6998367, essv6998414, essv6998419, essv6998361, essv6998385, essv6998349, essv6998325, essv6998289, essv6998386, essv6998342, essv6998379, essv6998343, essv6998301, essv6998374, essv6998261, essv6998281, essv6998276, essv6998412, essv6998369, essv6998306, essv6998304, essv6998262, essv6998319, essv6998396, essv6998332, essv6998257, essv6998434, essv6998376, essv6998265, essv6998420, essv6998337, essv6998400, essv6998324, essv6998268, essv6998331, essv6998320, essv6998259, essv6998280, essv6998264, essv6998321
SamplesSW_0509, SW_0285, SW_1400, SW_1192, SW_1108, SW_1210, SW_1427, SW_0835, SW_1433, SW_1017, SW_1070, SW_0158, SW_1056, SW_1436, SW_0102, SW_1259, SW_1076, SW_0677, SW_1143, SW_0607, SW_1150, SW_1425, SW_1457, SW_1105, SW_1132, SW_1092, SW_1184, SW_0771, SW_1367, SW_1232, SW_0804, SW_0570, SW_1236, SW_0660, SW_0020, SW_1013, SW_1512, SW_1302, SW_1124, SW_0815, SW_0589, SW_0818, SW_1254, SW_0828, SW_0141, SW_0760, SW_1126, SW_1057, SW_0047, SW_0650, SW_0785, SW_0295, SW_1309, SW_0376, SW_1393, SW_1547, SW_0230, SW_0369, SW_0172, SW_1468, SW_1288, SW_1243, SW_0071, SW_1196, SW_1485, SW_0625, SW_0077, SW_1355, SW_0216, SW_1009, SW_1289, SW_0803, SW_1107, SW_0789, SW_1212, SW_1172, SW_1144, SW_1043, SW_1053, SW_1233, SW_1095, SW_0554, SW_1323, SW_1120, SW_0628, SW_1389, SW_1198, SW_1543, SW_1417, SW_0076, SW_1414, SW_1228, SW_1423, SW_1103, SW_1341, SW_1194, SW_1483, SW_1435, SW_0215, SW_1438, SW_1220, SW_1277, SW_1072, SW_0577, SW_0165, SW_1501, SW_1471, SW_1340, SW_0594, SW_0007, SW_0118, SW_0339, SW_1101, SW_1378, SW_0829, SW_1346, SW_1510, SW_0269, SW_0323, SW_1349, SW_0103, SW_1068, SW_0678, SW_0113, SW_0606, SW_0673, SW_1248, SW_1429, SW_1083, SW_1313, SW_1301, SW_1157, SW_0018, SW_1156, SW_1505, SW_1096, SW_1045, SW_1463, SW_0198, SW_0155, SW_0820, SW_0791, SW_1180, SW_1217, SW_1424, SW_1509, SW_1308, SW_1317, SW_1273, SW_0842, SW_1119, SW_1073, SW_1003, SW_1208, SW_0675, SW_1213, SW_1450, SW_1503, SW_0836, SW_0090, SW_1303
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2761533
Frequency
Sample Size1109
Observed Gain150
Observed Loss12
Observed Complex0
Frequencyn/a


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