A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763695



Internal ID10376375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501276..42584045hg38UCSC Ensembl
Innerchr22:42897282..42980051hg19UCSC Ensembl
Innerchr22:41227226..41309995hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3882770
hg1982770
hg1882770
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv101e203
Supporting Variantsessv7004845, essv7004846, essv7004823, essv7004826, essv7004840, essv7004831, essv7004834, essv7004817, essv7004815, essv7004837, essv7004825, essv7004842, essv7004819, essv7004835, essv7004836, essv7004830, essv7004832, essv7004843, essv7004816, essv7004820, essv7004828, essv7004824, essv7004838, essv7004818, essv7004827, essv7004829, essv7004839, essv7004821, essv7004841
SamplesSW_1125, SW_0813, SW_0145, SW_0199, SW_0146, SW_1343, SW_0191, SW_1397, SW_0015, SW_0189, SW_1085, SW_0758, SW_1134, SW_1389, SW_0843, SW_1471, SW_1230, SW_0113, SW_0872, SW_1416, SW_1571, SW_1180, SW_0144, SW_1175, SW_1046, SW_1209, SW_0090
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)esv2763695
Frequency
Sample Size1109
Observed Gain26
Observed Loss3
Observed Complex0
Frequencyn/a


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