A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998473



Internal ID10357350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27129841..27144638hg38UCSC Ensembl
Innerchr14:27599047..27613844hg19UCSC Ensembl
Innerchr14:26668887..26683684hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3814798
hg1914798
hg1814798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761621
Supporting Variants
SamplesSW_0603
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)essv6998473
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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