A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761714



Internal ID10029064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117860724..117864360hg38UCSC Ensembl
Innerchr11:117731439..117735075hg19UCSC Ensembl
Innerchr11:117236649..117240285hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383637
hg193637
hg183637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996311
SamplesSW_0173
Known GenesFXYD6, FXYD6-FXYD2
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)esv2761714
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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