A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763727



Internal ID10377763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:105580934..105645664hg38UCSC Ensembl
Innerchr3:105299778..105364508hg19UCSC Ensembl
Innerchr3:106782468..106847198hg18UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3864731
hg1964731
hg1864731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027685, essv7027684
SamplesSW_1468, SW_1292
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)esv2763727
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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