A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027141



Internal ID10358229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53004770hg38UCSC Ensembl
Innerchr3:53028375..53038786hg19UCSC Ensembl
Innerchr3:53003415..53013826hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3810412
hg1910412
hg1810412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763768
Supporting Variants
SamplesSW_0641
Known GenesSFMBT1
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)essv7027141
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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