A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761344



Internal ID10374142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45958880..46229114hg38UCSC Ensembl
Innerchr14:46428083..46698317hg19UCSC Ensembl
Innerchr14:45497833..45768067hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38270235
hg19270235
hg18270235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998590, essv6998591, essv6998588
SamplesSW_0003, SW_0077, SW_0186
Known GenesLINC00871
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)esv2761344
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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