A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763679



Internal ID10031029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43407765..43422743hg38UCSC Ensembl
Innerchr21:44827645..44842623hg19UCSC Ensembl
Innerchr21:43652073..43667051hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814979
hg1914979
hg1814979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv97e203
Supporting Variantsessv7004414, essv7004413, essv7004415, essv7004410, essv7004409, essv7004408, essv7004407
SamplesSW_0552, SW_1355, SW_0296, SW_0554, SW_1265, SW_0585, SW_0241
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)esv2763679
Frequency
Sample Size1109
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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