A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv98e203



Internal ID20126323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15294547..15925481hg38UCSC Ensembl
chr22:16052528..16683416hg19UCSC Ensembl
chr22:14432528..15063416hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38630935
hg19630889
hg18630889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760727, esv2763707
SamplesRW_0208, SW_1290, RW_0169, RW_0585, RW_0138, SW_1400, RW_0348, SW_1427, SW_1283, SW_1443, SW_0059, SW_1433, SW_0575, RW_0520, RW_0093, RW_0007, SW_1436, RW_0268, SW_0164, RW_0604, RW_0090, SW_1425, SW_0846, SW_1097, SW_0570, SW_1138, SW_0875, RW_0025, RW_0283, SW_1129, SW_0020, SW_1023, RW_0614, SW_1124, RW_0062, SW_0200, RW_0113, SW_1057, SW_1456, SW_0785, SW_1253, RW_0536, SW_0376, SW_0375, SW_1468, SW_1288, SW_1243, RW_0558, SW_1485, SW_0077, SW_1404, RW_0224, RW_0004, SW_1102, SW_0538, SW_1144, RW_0645, RW_0318, SW_1389, RW_0611, RW_0177, SW_1423, RW_0020, SW_1435, RW_0212, SW_1277, SW_0577, RW_0289, SW_1340, SW_1264, SW_0120, RW_0249, RW_0053, SW_1482, RW_0106, RW_0667, SW_0254, RW_0521, SW_1346, RW_0278, SW_1510, RW_0507, RW_0663, SW_1349, SW_0524, SW_0186, RW_0335, RW_0132, SW_1313, RW_0273, RW_0229, RW_0220, SW_0198, SW_0155, SW_1424, SW_1509, SW_1308, SW_1317, RW_0191, SW_1119, SW_0090
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
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)dgv98e203
Frequency
Sample Size1109
Observed Gain72
Observed Loss29
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer