A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571363



Internal ID18699561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:113899185..113905902hg38UCSC Ensembl
Innerchr6:114220349..114227066hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386718
hg196718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1825e212
Supporting Variantsessv9781403, essv9781402, essv9781410, essv9781429, essv9781420, essv9781414, essv9781391, essv9781415, essv9781426, essv9781393, essv9781409, essv9781398, essv9781388, essv9781395, essv9781425, essv9781427, essv9781412, essv9781404, essv9781413, essv9781383, essv9781408, essv9781424, essv9781406, essv9781397, essv9781387, essv9781394, essv9781386, essv9781396, essv9781407, essv9781382, essv9781418, essv9781430, essv9781392, essv9781401, essv9781416, essv9781419, essv9781384, essv9781428, essv9781390, essv9781421, essv9781399, essv9781385, essv9781405, essv9781417
Samples400308SP, 400618GC, 400439IM, 401852SK, 400739SS, 401330RR, 401518VK, 401856GC, 401468RL, 401030GI, 400486LS, 401566DD, 401994BD, 400186WC, 400198MD, 401873BK, 401732HW, 401397WN, 401714BM, 401540NA, 400768MN, 401717LP, 401694SG, 401859GS, 401084BD, 401606CG, 401087SF, 400371GA, 401778CB, 400177CG, 400671PP, 401365DJ, 401958MF, 401010HT, 401786WD, 401152MV, 401143LK, 400261RN, 402042BJ, 401284NA, 400012CJ, 401510DG, 401490TL, 401482CB
Known GenesFLJ34503
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)esv3571363
Frequency
Sample Size873
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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