A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv101e203



Internal ID22760797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42488897..42584045hg38UCSC Ensembl
chr22:42884903..42980051hg19UCSC Ensembl
chr22:41214847..41309995hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3895149
hg1995149
hg1895149
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760723, esv2763695
SamplesSW_1125, SW_0813, RW_0203, RW_0636, SW_0145, RW_0292, SW_0199, RW_0553, RW_0329, RW_0105, SW_0146, RW_0196, RW_0099, RW_0075, RW_0090, SW_1343, SW_0191, SW_1397, RW_0658, RW_0181, RW_0510, RW_0271, SW_0015, RW_0062, SW_0189, RW_0131, RW_0017, SW_1085, RW_0544, SW_0758, RW_0272, SW_1134, RW_0324, RW_0567, RW_0176, SW_1389, RW_0299, RW_0587, RW_0251, RW_0210, SW_0843, RW_0008, SW_1471, RW_0053, SW_1230, RW_0190, SW_0113, RW_0589, SW_0872, SW_1416, SW_1571, SW_1180, RW_0581, RW_0209, RW_0144, RW_0184, RW_0057, SW_0144, SW_1175, SW_1046, SW_1209, RW_0041, RW_0594, SW_0090, RW_0047
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, SERHL2
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)dgv101e203
Frequency
Sample Size1109
Observed Gain62
Observed Loss5
Observed Complex0
Frequencyn/a


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