A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv97e203



Internal ID20126322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43402377..43422743hg38UCSC Ensembl
chr21:44822257..44842623hg19UCSC Ensembl
chr21:43646685..43667051hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3820367
hg1920367
hg1820367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2763679, esv2760703
SamplesRW_0164, RW_0176, SW_1265, SW_0296, SW_0552, SW_0241, SW_1355, RW_0033, RW_0535, RW_0014, SW_0554, SW_0585, RW_0605
Known GenesSIK1
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)dgv97e203
Frequency
Sample Size1109
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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