A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99e203



Internal ID20126324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18173093..19019471hg38UCSC Ensembl
chr22:18655860..19006984hg19UCSC Ensembl
chr22:17035860..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38846379
hg19351125
hg18351125
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2763706, esv2760714
SamplesSW_1242, SW_1366, SW_1056, RW_0604, SW_1425, SW_1246, RW_0243, RW_0555, SW_1258, SW_1285, SW_0507, SW_0048, SW_0860, SW_0077, SW_0701, SW_0165, RW_0289, SW_0887, SW_0829, SW_1346, RW_0669, SW_1345, SW_0323, RW_0186, SW_0088, SW_1373, SW_1551, SW_1416, SW_0820, SW_1384, SW_1201, SW_0603, SW_1128, SW_0627, SW_1046
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
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)dgv99e203
Frequency
Sample Size1109
Observed Gain26
Observed Loss9
Observed Complex0
Frequencyn/a


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