A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9812787



Internal ID18668618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19240831..19585268hg38UCSC Ensembl
Innerchr17:19144144..19488581hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38344438
hg19344438
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582561
Supporting Variants
Samples401254AE
Known GenesB9D1, EPN2, EPN2-AS1, EPN2-IT1, MAPK7, MFAP4, MIR1180, RNF112, SLC47A1, SNORA59A, SNORA59B
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
CommentsNumber of probes=352
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9812787
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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