A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv41e212



Internal ID20148497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59515533..59526296hg38UCSC Ensembl
chr1:59981205..59991968hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3810764
hg1910764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577886, esv3577887
Samples401571SD, 401818PC, 400927BD, 401281BP, 402033WD, 402038MR, 400051MR, 400236DB, 401700BN, 401498HH, 401235IA, 401415CB, 400468OB
Known GenesFGGY
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)dgv41e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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