A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763711



Internal ID10031061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:3921859..4227347hg38UCSC Ensembl
Innerchr3:3963543..4269031hg19UCSC Ensembl
Innerchr3:3938543..4244031hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38305489
hg19305489
hg18305489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024489, essv7024478, essv7024434, essv7024467, essv7024445, essv7024500, essv7024423, essv7024456
SamplesSW_0636, SW_1118, SW_0173, SW_0589, SW_1198, SW_0183, SW_0031, SW_1214
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)esv2763711
Frequency
Sample Size1109
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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