A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763078



Internal ID10375758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87894309..87895379hg38UCSC Ensembl
Innerchr14:88360653..88361723hg19UCSC Ensembl
Innerchr14:87430406..87431476hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg381071
hg191071
hg181071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022268
SamplesRW_0181
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)esv2763078
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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