A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv144e203



Internal ID22760840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110073310..110094225hg38UCSC Ensembl
chr6:110394513..110415428hg19UCSC Ensembl
chr6:110501206..110522121hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3820916
hg1920916
hg1820916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2761056, esv2763956
SamplesSW_1406, SW_0057, SW_0623, RW_0359, RW_0180, SW_0173, RW_0549, SW_0085, SW_1456, SW_0605, SW_1282, SW_1523, SW_0789, RW_0288, SW_0271, SW_0663, SW_0254, SW_1301, SW_0144, SW_0690, SW_0675
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)dgv144e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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