A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760356



Internal ID10376664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93848213..93864953hg38UCSC Ensembl
Innerchr14:94314559..94331299hg19UCSC Ensembl
Innerchr14:93384312..93401052hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3816741
hg1916741
hg1816741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022273, essv7022270, essv7022271, essv7022269, essv7022272
SamplesRW_0169, RW_0582, RW_0533, RW_0643, RW_0663
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)esv2760356
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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