A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760834



Internal ID10377141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12358312..12389386hg38UCSC Ensembl
Innerchr4:12359936..12391010hg19UCSC Ensembl
Innerchr4:11969034..12000108hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3831075
hg1931075
hg1831075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010545, essv7010541, essv7010543, essv7010537, essv7010539, essv7010535, essv7010546, essv7010548, essv7010538, essv7010540, essv7010536, essv7010547, essv7010542
SamplesRW_0105, RW_0146, RW_0504, RW_0228, RW_0639, RW_0061, RW_0546, RW_0530, RW_0607, RW_0622, RW_0662, RW_0574, RW_0047
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)esv2760834
Frequency
Sample Size1109
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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