A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760340



Internal ID10376648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69547035..69566109hg38UCSC Ensembl
Innerchr14:70013752..70032826hg19UCSC Ensembl
Innerchr14:69083505..69102579hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3819075
hg1919075
hg1819075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022227, essv7022224, essv7022225, essv7022228, essv7022231, essv7022226, essv7022230, essv7022223, essv7022229
SamplesRW_0178, RW_0017, RW_0171, RW_0279, RW_0250, RW_0001, RW_0117, RW_0275, RW_0028
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)esv2760340
Frequency
Sample Size1109
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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