A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584186



Internal ID18712384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177843232..177851621hg38UCSC Ensembl
Innerchr2:178707959..178716348hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg388390
hg198390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1189e212
Supporting Variantsessv9835937, essv9835922, essv9835964, essv9835970, essv9835945, essv9835935, essv9835954, essv9835929, essv9835950, essv9835934, essv9835952, essv9835941, essv9835968, essv9835946, essv9835926, essv9835948, essv9835940, essv9835972, essv9835924, essv9835938, essv9835959, essv9835931, essv9835936, essv9835965, essv9835956, essv9835920, essv9835942, essv9835928, essv9835939, essv9835960, essv9835962, essv9835973, essv9835923, essv9835963, essv9835947, essv9835961, essv9835971, essv9835927, essv9835958, essv9835967, essv9835974, essv9835943, essv9835919, essv9835957, essv9835925, essv9835953, essv9835969, essv9835930, essv9835951, essv9835975, essv9835949
Samples401497PR, 401021SC, 400105BB, 401986LC, 401769CR, 400626FC, 401962BK, 402067KS, 401321CE, 401079HJ, 401403TD, 400595CP, 400730SH, 401949MN, 400347VJ, 400245SJ, 400360SM, 401990PR, 401258PC, 401113MJ, 400022WA, 400338SR, 401198TI, 401746WW, 400236DB, 401591BE, 401870FB, 400977SC, 401853WR, 401278DM, 400265LK, 401952UH, 401262RR, 401017SC, 401086MD, 401391PJ, 400624RJ, 401608GE, 402009WP, 400376SJ, 402051AF, 401552BK, 400863SS, 400759FV, 401894PD, 401809FU, 401215MJ, 400209BS, 401612HB, 400091BS, 401490TL
Known GenesPDE11A
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)esv3584186
Frequency
Sample Size873
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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