A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761544



Internal ID10374342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48278327..48435928hg38UCSC Ensembl
Innerchr14:48747530..48905131hg19UCSC Ensembl
Innerchr14:47817280..47974881hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38157602
hg19157602
hg18157602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998617, essv6998616
SamplesSW_0184, SW_0159
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)esv2761544
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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