A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571401



Internal ID18699599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133945117..133956818hg38UCSC Ensembl
Innerchr6:134266255..134277956hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3811702
hg1911702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1832e212
Supporting Variantsessv9781953, essv9781926, essv9781975, essv9781974, essv9781932, essv9781940, essv9781949, essv9781952, essv9781965, essv9781991, essv9781954, essv9781983, essv9781990, essv9781941, essv9781956, essv9781961, essv9781968, essv9781951, essv9781981, essv9781984, essv9781976, essv9781937, essv9781982, essv9781963, essv9781979, essv9781927, essv9781947, essv9781928, essv9781962, essv9781934, essv9781959, essv9781945, essv9781980, essv9781935, essv9781929, essv9781942, essv9781970, essv9781936, essv9781964, essv9781987, essv9781971, essv9781939, essv9781950, essv9781946, essv9781931, essv9781948, essv9781957, essv9781960, essv9781972, essv9781986, essv9781930, essv9781985, essv9781938, essv9781958, essv9781943, essv9781988, essv9781969, essv9781967, essv9781973
Samples401636WR, 401706BJ, 400908PJ, 400984LD, 400439IM, 400876OG, 401498HH, 401518VK, 400068PW, 401927SK, 401151RJ, 400641WJ, 401857VG, 401426WD, 400948EV, 401355CD, 400453LN, 401582GG, 402016HZ, 401792KR, 402028BD, 401695BT, 400503HD, 400073HT, 401672FD, 400033KC, 401646MC, 401620BA, 400533BB, 401939GD, 400070PC, 401652HL, 400829MR, 401730MS, 401346FJ, 400800MW, 402022SM, 400278PD, 401711WS, 402074RR, 401514BA, 400788PV, 401334DH, 401391PJ, 400671PP, 401898DS, 401496SL, 400770MA, 400722OM, 401661HD, 400323AA, 400508RD, 400581VJ, 400164SS, 401510DG, 401480PG, 400243CK, 400152MR, 401490TL
Known GenesTBPL1
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)esv3571401
Frequency
Sample Size873
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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