A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584328



Internal ID18712526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212500527..212508265hg38UCSC Ensembl
Innerchr2:213365251..213372989hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387739
hg197739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1209e212
Supporting Variantsessv9836854, essv9836849, essv9836848, essv9836853, essv9836846, essv9836852, essv9836847, essv9836851, essv9836850
Samples401162TM, 400453LN, 401132CH, 400721DJ, 401884WJ, 400274TL, 402009WP, 401681MS, 401480PG
Known GenesERBB4
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)esv3584328
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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