A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761588



Internal ID10374386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881358..20941822hg38UCSC Ensembl
Innerchr14:21349517..21409981hg19UCSC Ensembl
Innerchr14:20419357..20479821hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860465
hg1960465
hg1860465
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv34e203
Supporting Variantsessv6998439, essv6998438
SamplesSW_1148, SW_0675
Known GenesECRP, RNASE3
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)esv2761588
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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