A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763764



Internal ID10031114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128637371..128695318hg38UCSC Ensembl
Innerchr3:128356214..128414161hg19UCSC Ensembl
Innerchr3:129838904..129896851hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3857948
hg1957948
hg1857948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027713, essv7027714, essv7027722, essv7027724, essv7027730, essv7027718, essv7027727, essv7027716, essv7027717, essv7027731, essv7027732, essv7027711, essv7027726, essv7027725, essv7027728, essv7027720, essv7027710, essv7027709, essv7027708, essv7027719, essv7027715, essv7027729, essv7027721
SamplesSW_1242, SW_1111, SW_1396, SW_1365, SW_0191, SW_0875, SW_0029, SW_0647, SW_0888, SW_0351, SW_0605, SW_0230, SW_1104, SW_1134, SW_0073, SW_0021, SW_1112, SW_0323, SW_1422, SW_1139, SW_1520, SW_0160, SW_1046
Known GenesRPN1
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)esv2763764
Frequency
Sample Size1109
Observed Gain21
Observed Loss2
Observed Complex0
Frequencyn/a


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