A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv91e203



Internal ID22760787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16681573..16690114hg38UCSC Ensembl
chr20:16662218..16670759hg19UCSC Ensembl
chr20:16610218..16618759hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg388542
hg198542
hg188542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2760678, esv2763665
SamplesRW_0634, RW_0656, RW_0626, RW_0512, RW_0318, RW_0280, RW_0299, SW_0590, RW_0609, SW_0006, SW_0651, SW_1087, SW_0197
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)dgv91e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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