A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763887



Internal ID10377923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:653466..852451hg38UCSC Ensembl
Innerchr5:653581..852566hg19UCSC Ensembl
Innerchr5:706581..905566hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38198986
hg19198986
hg18198986
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131e203
Supporting Variantsessv7030516, essv7030498, essv7030555, essv7030553, essv7030541, essv7030560, essv7030419, essv7030488, essv7030542, essv7030417, essv7030478, essv7030537, essv7030495, essv7030544, essv7030538, essv7030452, essv7030580, essv7030563, essv7030551, essv7030503, essv7030558, essv7030569, essv7030440, essv7030442, essv7030420, essv7030444, essv7030522, essv7030578, essv7030559, essv7030518, essv7030464, essv7030481, essv7030418, essv7030529, essv7030405, essv7030406, essv7030526, essv7030487, essv7030462, essv7030430, essv7030556, essv7030496, essv7030473, essv7030585, essv7030458, essv7030465, essv7030445, essv7030577, essv7030545, essv7030449, essv7030514, essv7030505, essv7030454, essv7030427, essv7030576, essv7030472, essv7030570, essv7030451, essv7030520, essv7030415, essv7030433, essv7030411, essv7030530, essv7030443, essv7030573, essv7030572, essv7030483, essv7030492, essv7030467, essv7030571, essv7030554, essv7030455, essv7030517, essv7030507, essv7030461, essv7030549, essv7030423, essv7030584, essv7030548, essv7030448, essv7030567, essv7030561, essv7030521, essv7030582, essv7030416, essv7030499, essv7030547, essv7030414, essv7030583, essv7030428, essv7030484, essv7030486, essv7030437, essv7030474, essv7030408, essv7030511, essv7030510, essv7030469, essv7030409, essv7030515, essv7030532, essv7030447, essv7030456, essv7030425, essv7030550, essv7030502, essv7030519, essv7030493, essv7030527, essv7030533, essv7030475, essv7030422, essv7030439, essv7030536, essv7030480, essv7030434, essv7030429, essv7030566, essv7030438, essv7030508, essv7030491, essv7030581, essv7030470, essv7030543, essv7030407, essv7030531, essv7030436, essv7030485, essv7030421, essv7030525, essv7030540, essv7030500, essv7030506, essv7030450, essv7030489, essv7030460, essv7030441, essv7030513, essv7030431, essv7030528, essv7030494, essv7030476, essv7030574, essv7030552, essv7030497, essv7030562, essv7030466, essv7030565, essv7030459, essv7030471, essv7030410, essv7030534, essv7030432, essv7030463, essv7030426, essv7030575, essv7030477, essv7030509, essv7030504, essv7030482, essv7030564, essv7030453, essv7030539
SamplesSW_1441, SW_1372, SW_0831, SW_0201, SW_0832, SW_1108, SW_1021, SW_0354, SW_0119, SW_1063, SW_1443, SW_0199, SW_1064, SW_1111, SW_1017, SW_1199, SW_1056, SW_0623, SW_0072, SW_1080, SW_0889, SW_1168, SW_0607, SW_1042, SW_1244, SW_1051, SW_1396, SW_1365, SW_1464, SW_1132, SW_0115, SW_1348, SW_0191, SW_1223, SW_1330, SW_1049, SW_0045, SW_0890, SW_0029, SW_1129, SW_0647, SW_1447, SW_0834, SW_1066, SW_1023, SW_1013, SW_0581, SW_1302, SW_1124, SW_0815, SW_0800, SW_0888, SW_0200, SW_0189, SW_1455, SW_1258, SW_0869, SW_0085, SW_1126, SW_1055, SW_1082, SW_0047, SW_0507, SW_0227, SW_0605, SW_1282, SW_1085, SW_1469, SW_0805, SW_0862, SW_1477, SW_1153, SW_1468, SW_1470, SW_1243, SW_0648, SW_1485, SW_0214, SW_0077, SW_1408, SW_1165, SW_1028, SW_1006, SW_0296, SW_1053, SW_1371, SW_0859, SW_1323, SW_1148, SW_1088, SW_1353, SW_1198, SW_1543, SW_1171, SW_1356, SW_1130, SW_1414, SW_0044, SW_0211, SW_1438, SW_0843, SW_0165, SW_1094, SW_0663, SW_0576, SW_1249, SW_0254, SW_0253, SW_0007, SW_0887, SW_1101, SW_0379, SW_1378, SW_1112, SW_1510, SW_0269, SW_0190, SW_1345, SW_1349, SW_0568, SW_1422, SW_0113, SW_0673, SW_1074, SW_0651, SW_1083, SW_0147, SW_1480, SW_1313, SW_1142, SW_0872, SW_1520, SW_0198, SW_0791, SW_0049, SW_0579, SW_1008, SW_0160, SW_1137, SW_1201, SW_1038, SW_1273, SW_1229, SW_0790, SW_0690, SW_1267, SW_0716, SW_0100, SW_0624, SW_0844, SW_1430, SW_1303
Known GenesCEP72, TPPP, ZDHHC11
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)esv2763887
Frequency
Sample Size1109
Observed Gain107
Observed Loss54
Observed Complex0
Frequencyn/a


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