A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763686



Internal ID10031036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36088564..36248238hg38UCSC Ensembl
Innerchr21:37460862..37620536hg19UCSC Ensembl
Innerchr21:36382732..36542406hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38159675
hg19159675
hg18159675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004396, essv7004401, essv7004395, essv7004397, essv7004398, essv7004399
SamplesSW_1425, SW_0046, SW_0253, SW_0606, SW_0160, SW_0836
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
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)esv2763686
Frequency
Sample Size1109
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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