A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573314



Internal ID18701512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:100974502..100999023hg38UCSC Ensembl
Innerchr9:103736784..103761305hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3824522
hg1924522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2171e212
Supporting Variantsessv9791242, essv9791243, essv9791241, essv9791237, essv9791240, essv9791238, essv9791239
Samples400622SJ, 401918CA, 400051MR, 400416KA, 400705KK, 401981GF, 400788PV
Known Genes
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)esv3573314
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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