A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004395



Internal ID10025263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36088564..36137754hg38UCSC Ensembl
Innerchr21:37460862..37510052hg19UCSC Ensembl
Innerchr21:36382732..36431922hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3849191
hg1949191
hg1849191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763686
Supporting Variants
SamplesSW_1425
Known GenesCBR3, CBR3-AS1, 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)essv7004395
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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