A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88e203



Internal ID20126313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208372862..208384078hg38UCSC Ensembl
chr2:209237587..209248803hg19UCSC Ensembl
chr2:208945832..208957048hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3811217
hg1911217
hg1811217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760598, esv2763084
SamplesRW_0075, SW_1252, RW_0008, RW_0277, RW_0223
Known GenesPTH2R
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)dgv88e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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