A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582623



Internal ID18710821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37990446..38248129hg38UCSC Ensembl
Innerchr17:36350006..36404136hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38257684
hg1954131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv916e212
Supporting Variantsessv9813320, essv9813319, essv9813322
Samples401958MF, 400243CK, 400704LC
Known GenesLOC440434
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)esv3582623
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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