A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv155e203



Internal ID20126380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:15542279..15555938hg38UCSC Ensembl
chr8:15399788..15413447hg19UCSC Ensembl
chr8:15444159..15457818hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3813660
hg1913660
hg1813660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761242, esv2764116
SamplesSW_1451, SW_1027, SW_1365, SW_1409, SW_0341, SW_0191, SW_0086, SW_1447, SW_0033, SW_0815, SW_0759, SW_0085, RW_0115, SW_0552, RW_0602, SW_1527, SW_1323, SW_0021, SW_1179, SW_1103, SW_0183, SW_0659, SW_0653, SW_1346, RW_0622, SW_1116, SW_1551, SW_1209, SW_0241
Known GenesTUSC3
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)dgv155e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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