A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv115e203



Internal ID20126340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12281..80417hg38UCSC Ensembl
chr4:12281..80310hg19UCSC Ensembl
chr4:2281..70310hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3868137
hg1968030
hg1868030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2762385, esv2762397, esv2762382, esv2762384, esv2762394, esv2762393, esv2762383, esv2762392, esv2762396, esv2762387
SamplesRW_0357, RW_0184, RW_0315, RW_0614, RW_0546, RW_0208, RW_0217, RW_0358, RW_0349, RW_0233
Known GenesZNF595, ZNF718
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)dgv115e203
Frequency
Sample Size1109
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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