A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761555



Internal ID10374353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98711806..98727670hg38UCSC Ensembl
Innerchr14:99178143..99194007hg19UCSC Ensembl
Innerchr14:98247896..98263760hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3815865
hg1915865
hg1815865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998743, essv6998742, essv6998741
SamplesSW_1085, SW_0758, SW_0628
Known GenesC14orf177
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)esv2761555
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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