A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e203



Internal ID20126237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47993784..48154966hg38UCSC Ensembl
chr10:49201820..49363009hg19UCSC Ensembl
chr10:48871826..49033015hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38161183
hg19161190
hg18161190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760150, esv2763891
SamplesRW_0173, SW_1000, SW_1267, RW_0632, SW_0621, SW_1263, SW_1150
Known GenesCTGLF12P, FAM25C, FAM25G
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)dgv12e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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