A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761850



Internal ID10029200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87932027..87953014hg38UCSC Ensembl
Innerchr14:88398371..88419358hg19UCSC Ensembl
Innerchr14:87468124..87489111hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3820988
hg1920988
hg1820988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998736
SamplesSW_1059
Known GenesGALC
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)esv2761850
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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