A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv82e203



Internal ID22760778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55095759..55103214hg38UCSC Ensembl
chr2:55322895..55330350hg19UCSC Ensembl
chr2:55176399..55183854hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg387456
hg197456
hg187456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760568, esv2763510
SamplesRW_0118, SW_1028, RW_0349, RW_0002, RW_0001, SW_0244, RW_0273, RW_0183, RW_0031, RW_0034
Known Genes
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)dgv82e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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