A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv100e203



Internal ID18985077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25232032..25612136hg38UCSC Ensembl
chr22:25627999..26008103hg19UCSC Ensembl
chr22:23957999..24338103hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38380105
hg19380105
hg18380105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760720, esv2763705
SamplesRW_0631, RW_0357, SW_0831, RW_0587, RW_0539, SW_1075, SW_1301, SW_1265, RW_0108, SW_1398, SW_0800, RW_0029, SW_1124, SW_1481, RW_0570, RW_0562, SW_1520, RW_0115, RW_0532, SW_1138, SW_0641, RW_0578, RW_0073, SW_1030, SW_0834, SW_1040, RW_0272, SW_1447, SW_0057, RW_0031, RW_0152, SW_0379, SW_1373, SW_0100, RW_0250, RW_0593, SW_0047, RW_0143, RW_0046, RW_0643, RW_0584, SW_1414, RW_0256, RW_0528, RW_0170, SW_0586, RW_0106, SW_1441, SW_1249, SW_0883, RW_0312, RW_0267, SW_1304, SW_1098, SW_0018, RW_0230, SW_1082, SW_1384, SW_1254, RW_0560, SW_1134, RW_0601, RW_0663, SW_0375, RW_0003, RW_0192, RW_0653, SW_1393, SW_1184, SW_1059, RW_0169, RW_0597, RW_0161, RW_0288, RW_0507, RW_0077, SW_0660, RW_0205, SW_1074, RW_0008, SW_1252, RW_0302, SW_1411, SW_0271, SW_0062
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv100e203
Frequency
Sample Size1109
Observed Gain53
Observed Loss32
Observed Complex0
Frequencyn/a


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