A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581259



Internal ID18709457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67780857..67784296hg38UCSC Ensembl
Innerchr14:68247574..68251013hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg383440
hg193440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv648e212
Supporting Variantsessv9806004, essv9806013, essv9806012, essv9806008, essv9805995, essv9806015, essv9806010, essv9806018, essv9805997, essv9805996, essv9805994, essv9806006, essv9806009, essv9806003, essv9806001, essv9806017, essv9806005, essv9805999, essv9805998, essv9806019, essv9806002, essv9806016, essv9806007, essv9806014
Samples400911GA, 400439IM, 401819BS, 401498HH, 401401BA, 400022WA, 401198TI, 402029KJ, 401900RJ, 401714BM, 401939GD, 401499JR, 401853WR, 401346FJ, 400800MW, 401182OC, 400671PP, 400376SJ, 401858TP, 401817MC, 401177SL, 401458RT, 401453OL, 401969DR
Known GenesZFYVE26
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3581259
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer