A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582836



Internal ID18711034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57603244..57611677hg38UCSC Ensembl
Innerchr17:55680605..55689038hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388434
hg198434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv956e212
Supporting Variantsessv9814876, essv9814884, essv9814879, essv9814882, essv9814873, essv9814872, essv9814865, essv9814881, essv9814869, essv9814883, essv9814877, essv9814871, essv9814868, essv9814886, essv9814874, essv9814885, essv9814880, essv9814887, essv9814870, essv9814875
Samples400101EH, 400626FC, 400468OB, 400294HD, 401911FL, 401949MN, 400606HW, 401870FB, 401357MH, 400122PL, 401262RR, 401778CB, 401361GG, 400624RJ, 400881GS, 401958MF, 401552BK, 400315DA, 400013TA, 401053MF
Known GenesMSI2
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)esv3582836
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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