A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv24e203

Internal ID20126249
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27487981..27506821hg38UCSC Ensembl
chr12:27640914..27659754hg19UCSC Ensembl
chr12:27532181..27551021hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760755, esv2760261
SamplesRW_0234, RW_0030, RW_0309, SW_0073, RW_0520, SW_0639, SW_0568, RW_0042, SW_1416, RW_0164, SW_1405, RW_0194, RW_0183, RW_0176, SW_0646, RW_0029, RW_0222, RW_0141, RW_0585, RW_0318, SW_0891, SW_0118, RW_0134, SW_1231, SW_1071, SW_0758, RW_0045, RW_0620, SW_0144, RW_0002, RW_0018, SW_0606, RW_0184, RW_0289, RW_0273, RW_0201, SW_0158, RW_0033, SW_0369, RW_0173, SW_1000, RW_0211, RW_0535, RW_0277, RW_0595, RW_0546, RW_0571, RW_0024, SW_1026, SW_1358, RW_0610, SW_1147, RW_0505, RW_0140, RW_0223, RW_0500, SW_1089, SW_1412, RW_0049, SW_1197, SW_1029, RW_0224, RW_0041, SW_1419, RW_0534, RW_0643, SW_0006, SW_0370, RW_0210, SW_0841, SW_0159, SW_1315, SW_1227, RW_0092, RW_0023, RW_0085, RW_0255, SW_1106, RW_0004, RW_0001, RW_0648, RW_0276, SW_1126, SW_1233, SW_1208, SW_1322, SW_0004, RW_0560, RW_0110, SW_0603, SW_1367, RW_0538, SW_1469, RW_0195, SW_0339, SW_0143, SW_0653, RW_0175, SW_0191, RW_0169, SW_1457, RW_0072, RW_0507, RW_0266, RW_0353, RW_0525, SW_1156, RW_0635, RW_0048, RW_0125, RW_0262, RW_0096, RW_0644, RW_0257, SW_1327, RW_0079, RW_0032, RW_0586, RW_0011, SW_0760, SW_1132, RW_0606, RW_0639, RW_0022, RW_0202, SW_1374
Known GenesSMCO2
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.
Pubmed ID21179565
Accession Number(s)dgv24e203
Sample Size1109
Observed Gain0
Observed Loss126
Observed Complex0

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