A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e203



Internal ID20126227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103556030..103761017hg38UCSC Ensembl
chr1:104098652..104303639hg19UCSC Ensembl
chr1:103900175..104105162hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38204988
hg19204988
hg18204988
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2764261, esv2763658
SamplesRW_0213, SW_1451, SW_1484, RW_0281, RW_0010, SW_1149, SW_1162, SW_0073, SW_0089, SW_0569, RW_0123, RW_0333, RW_0503, RW_0220, RW_0357, RW_0119, SW_1571, RW_0634, SW_1409, RW_0129, SW_0086, SW_1105, RW_0193, SW_0160, SW_0813, SW_0859, SW_1337, SW_1372, SW_1190, RW_0168, RW_0221, RW_0613, SW_0803, SW_1398, RW_0116, RW_0131, RW_0179, SW_1054, SW_0030, SW_0189, SW_1240, SW_1430, RW_0607, SW_1439, RW_0318, RW_0283, SW_1408, SW_1257, RW_0013, RW_0567, RW_0045, RW_0002, SW_1210, SW_1314, SW_1361, RW_0018, SW_0148, SW_1020, RW_0315, SW_1318, SW_1109, SW_1478, SW_0651, SW_1317, SW_1330, RW_0577, RW_0630, SW_0164, SW_1370, RW_0292, RW_0596, SW_0158, SW_0121, SW_0369, SW_1402, RW_0186, RW_0211, SW_0048, SW_0019, RW_0014, SW_0009, SW_0607, RW_0280, SW_0020, SW_0057, RW_0571, RW_0346, SW_1163, SW_0368, SW_1021, RW_0031, SW_0063, SW_1228, RW_0208, RW_0237, SW_0844, SW_0002, RW_0299, RW_0506, RW_0071, SW_0554, SW_0635, SW_1130, SW_1147, RW_0505, SW_1259, SW_0647, SW_1087, RW_0180, SW_0323, SW_1412, SW_1101, SW_0145, SW_1068, SW_1482, RW_0087, RW_0508, SW_1413, RW_0293, SW_1366, SW_1213, RW_0658, SW_0509, RW_0666, SW_1152, SW_1527, RW_0529, RW_0593, RW_0616, SW_0846, RW_0166, RW_0209, RW_0275, SW_1510, RW_0249, RW_0063, SW_0006, SW_0888, RW_0210, SW_0785, SW_0885, SW_1065, SW_1424, SW_0256, RW_0524, RW_0617, SW_0883, SW_1182, SW_1335, SW_1448, RW_0128, SW_1395, SW_0199, SW_1113, SW_1119, RW_0004, SW_0286, SW_1270, RW_0178, SW_0884, SW_1384, RW_0112, SW_0702, SW_0822, RW_0260, SW_0072, SW_1012, SW_0201, SW_1112, SW_1322, RW_0207, RW_0511, RW_0148, SW_0609, RW_0286, RW_0601, SW_1114, SW_0102, RW_0564, SW_0032, SW_1045, RW_0132, SW_1230, SW_1523, SW_1469, RW_0195, SW_0653, RW_0080, SW_0186, SW_0575, RW_0175, SW_0786, SW_1285, SW_1386, SW_1028, SW_1509, RW_0149, SW_0015, SW_0187, SW_1457, RW_0147, RW_0597, RW_0061, RW_0084, RW_0590, RW_0266, SW_1325, RW_0359, SW_0170, SW_0835, SW_0049, SW_1221, SW_0103, SW_1156, SW_0661, SW_0017, SW_1074, SW_0175, SW_1080, SW_1140, RW_0203, SW_1455, SW_1263, SW_1417, RW_0238, SW_0623, RW_0652, SW_1242, RW_0335, SW_0200, SW_0313, SW_0717, SW_1003, RW_0079, SW_0789, SW_1517, SW_1042, SW_0832, SW_1284, RW_0190, SW_0271, RW_0586, SW_1043, SW_0760, SW_0648, RW_0005, RW_0215, RW_0606, SW_1374
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
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)dgv2e203
Frequency
Sample Size1109
Observed Gain153
Observed Loss97
Observed Complex0
Frequencyn/a


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