A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv156e203



Internal ID22760852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40324598..40338120hg38UCSC Ensembl
chr8:40182117..40195639hg19UCSC Ensembl
chr8:40301274..40314796hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3813523
hg1913523
hg1813523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2764123, esv2761194
SamplesRW_0208, SW_0831, RW_0237, SW_1222, SW_1400, SW_1108, RW_0636, SW_1170, RW_0158, SW_0575, RW_0520, RW_0610, SW_1042, SW_0164, SW_1150, SW_1425, SW_1324, SW_1287, SW_0762, RW_0322, SW_1195, RW_0560, RW_0134, SW_0086, RW_0205, SW_1397, SW_1294, RW_0180, RW_0202, RW_0098, RW_0640, RW_0309, SW_0020, SW_1261, SW_0815, RW_0549, RW_0624, SW_0604, RW_0216, RW_0174, SW_1258, RW_0113, SW_1126, SW_1263, RW_0502, SW_0185, SW_0048, RW_0570, SW_0648, RW_0623, RW_0506, RW_0522, RW_0577, RW_0118, SW_1190, RW_0539, SW_0216, SW_1028, SW_0073, SW_0803, SW_1276, SW_0757, RW_0143, RW_0576, SW_1508, SW_1371, SW_0859, RW_0318, RW_0608, SW_1411, SW_1120, RW_0175, RW_0077, SW_1162, RW_0302, RW_0177, RW_0091, RW_0587, SW_1103, RW_0664, RW_0607, RW_0252, SW_1438, RW_0260, RW_0251, RW_0210, SW_1265, RW_0231, RW_0194, SW_1205, SW_0118, RW_0166, SW_1112, SW_1510, SW_1004, RW_0331, RW_0562, SW_0031, SW_0678, RW_0013, RW_0048, SW_0651, SW_1248, RW_0632, SW_1142, RW_0229, RW_0108, RW_0584, SW_1463, RW_0579, SW_1180, SW_1217, RW_0277, SW_1137, RW_0028, RW_0263, SW_1279, SW_0842, SW_1229, SW_1046, SW_1073, SW_0148, RW_0207, RW_0107, RW_0550, RW_0084, SW_0169, SW_1281, SW_1203, SW_0239
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)dgv156e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss130
Observed Complex0
Frequencyn/a


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