A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027058



Internal ID10357491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37940617..37945651hg38UCSC Ensembl
Innerchr3:37982108..37987142hg19UCSC Ensembl
Innerchr3:37957112..37962146hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg385035
hg195035
hg185035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763754
Supporting Variants
SamplesSW_0606
Known GenesCTDSPL
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)essv7027058
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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