A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026483



Internal ID10333540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:23024136..23088724hg38UCSC Ensembl
Innerchr21:24396458..24461046hg19UCSC Ensembl
Innerchr21:23318329..23382917hg18UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3864589
hg1964589
hg1864589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760686
Supporting Variants
SamplesRW_0050
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)essv7026483
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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