A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763774



Internal ID10031124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2127861..2181323hg38UCSC Ensembl
Innerchr3:2169545..2223007hg19UCSC Ensembl
Innerchr3:2144545..2198007hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3853463
hg1953463
hg1853463
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024412, essv7024400
SamplesSW_0115, SW_1189
Known GenesCNTN4, CNTN4-AS2
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)esv2763774
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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