A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763731



Internal ID10031081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:243604..1386714hg38UCSC Ensembl
Innerchr3:285287..1428398hg19UCSC Ensembl
Innerchr3:260287..1403398hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381143111
hg191143112
hg181143112
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024312, essv7024278, essv7024301, essv7024289
SamplesSW_0758, SW_1290, SW_0663, SW_1157
Known GenesCHL1, CNTN6
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)esv2763731
Frequency
Sample Size1109
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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