A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e203



Internal ID20126245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59023521..59101750hg38UCSC Ensembl
chr11:58790994..58869223hg19UCSC Ensembl
chr11:58547570..58625799hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3878230
hg1978230
hg1878230
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760644, esv2760175
SamplesSW_0370, SW_0773, RW_0268, SW_1174, RW_0504, RW_0510, RW_0536, RW_0577, RW_0173, RW_0539, RW_0171, SW_0091, SW_1327, SW_0187, RW_0190, SW_0170, RW_0057
Known GenesLOC283194
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)dgv20e203
Frequency
Sample Size1109
Observed Gain14
Observed Loss3
Observed Complex0
Frequencyn/a


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