A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763797



Internal ID10377833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34763188..34833940hg38UCSC Ensembl
Innerchr4:34764810..34835562hg19UCSC Ensembl
Innerchr4:34441205..34511957hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3870753
hg1970753
hg1870753
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029114, essv7029205, essv7029138, essv7029115, essv7029143, essv7029052, essv7029171, essv7029185, essv7029088, essv7029112, essv7029150, essv7029155, essv7029089, essv7029211, essv7029145, essv7029072, essv7029126, essv7029061, essv7029055, essv7029175, essv7029077, essv7029040, essv7029216, essv7029187, essv7029129, essv7029210, essv7029140, essv7029134, essv7029139, essv7029041, essv7029108, essv7029197, essv7029092, essv7029218, essv7029149, essv7029107, essv7029065, essv7029058, essv7029144, essv7029181, essv7029176, essv7029172, essv7029123, essv7029167, essv7029166, essv7029042, essv7029198, essv7029212, essv7029184, essv7029194, essv7029118, essv7029128, essv7029064, essv7029183, essv7029099, essv7029103, essv7029081, essv7029180, essv7029097, essv7029186, essv7029174, essv7029050, essv7029086, essv7029054, essv7029163, essv7029158, essv7029085, essv7029201, essv7029164, essv7029177, essv7029214, essv7029074, essv7029204, essv7029192, essv7029056, essv7029047, essv7029188, essv7029154, essv7029109, essv7029182, essv7029071, essv7029209, essv7029119, essv7029137, essv7029131, essv7029062, essv7029156, essv7029082, essv7029117, essv7029101, essv7029087, essv7029069, essv7029043, essv7029078, essv7029217, essv7029094, essv7029196, essv7029169, essv7029153, essv7029203, essv7029151, essv7029104, essv7029170, essv7029051, essv7029199, essv7029142, essv7029130, essv7029141, essv7029125, essv7029147, essv7029096, essv7029059, essv7029207, essv7029200, essv7029162, essv7029127, essv7029116, essv7029178, essv7029122, essv7029111, essv7029073, essv7029076, essv7029206, essv7029159, essv7029053, essv7029084, essv7029215, essv7029083, essv7029136, essv7029066, essv7029098, essv7029106, essv7029132, essv7029105, essv7029208, essv7029070, essv7029060, essv7029152, essv7029045, essv7029160, essv7029090, essv7029095, essv7029063, essv7029075, essv7029161, essv7029100, essv7029195, essv7029133, essv7029165, essv7029110, essv7029189, essv7029148, essv7029173, essv7029049, essv7029044, essv7029093, essv7029120, essv7029048, essv7029193, essv7029067, essv7029121
SamplesSW_1451, SW_0638, SW_1372, SW_1539, SW_0057, SW_0201, SW_1400, SW_1366, SW_0145, SW_1402, SW_1257, SW_1459, SW_0199, SW_0059, SW_0158, SW_0146, SW_0773, SW_1436, SW_0063, SW_0607, SW_0639, SW_1425, SW_1051, SW_0578, SW_0175, SW_0149, SW_1387, SW_0341, SW_0046, SW_1437, SW_1272, SW_0771, SW_0191, SW_0086, SW_1330, SW_1031, SW_0691, SW_0029, SW_1197, SW_0173, SW_0033, SW_1376, SW_0099, SW_1351, SW_0818, SW_0702, SW_0604, SW_0189, SW_1431, SW_1361, SW_1245, SW_1570, SW_0085, SW_0141, SW_1413, SW_0760, SW_1456, SW_0507, SW_1337, SW_0048, SW_1448, SW_1282, SW_1469, SW_1393, SW_1547, SW_0005, SW_0862, SW_0525, SW_0062, SW_1466, SW_1468, SW_1243, SW_1404, SW_1355, SW_1408, SW_1523, SW_1446, SW_0296, SW_1504, SW_0803, SW_0789, SW_0757, SW_1212, SW_0761, SW_1034, SW_1508, SW_1357, SW_1371, SW_0628, SW_1465, SW_1389, SW_0002, SW_1543, SW_1171, SW_1162, SW_0076, SW_0641, SW_1029, SW_0703, SW_0701, SW_0089, SW_1103, SW_0271, SW_1506, SW_1483, SW_1435, SW_0183, SW_0091, SW_0843, SW_0577, SW_1501, SW_1327, SW_1472, SW_1094, SW_0663, SW_1340, SW_1482, SW_1193, SW_0775, SW_1176, SW_0379, SW_1378, SW_1112, SW_0061, SW_0004, SW_1326, SW_0833, SW_1345, SW_0323, SW_1349, SW_1334, SW_0855, SW_1422, SW_1068, SW_1517, SW_0031, SW_1313, SW_0088, SW_0340, SW_0872, SW_1520, SW_1505, SW_0632, SW_1045, SW_0198, SW_0155, SW_0049, SW_0170, SW_0009, SW_1046, SW_1484, SW_1381, SW_0242, SW_0197, SW_1364, SW_1003, SW_0100, SW_0241, SW_1450, SW_1503, SW_1430
Known Genes
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)esv2763797
Frequency
Sample Size1109
Observed Gain2
Observed Loss159
Observed Complex0
Frequencyn/a


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