A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv160e203



Internal ID22760856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100970966..100983647hg38UCSC Ensembl
chr8:101983194..101995875hg19UCSC Ensembl
chr8:102052370..102065051hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3812682
hg1912682
hg1812682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2764119, esv2761221
SamplesRW_0187, SW_1144, SW_1357, RW_0028
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)dgv160e203
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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