A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574265



Internal ID18355777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:102225791..102342372hg38UCSC Ensembl
InnerchrX:101480784..101597295hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38116582
hg19116512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2351e212
Supporting Variantsessv9827981, essv9827992, essv9827975, essv9827985, essv9827974, essv9827988, essv9827994, essv9827984, essv9827979, essv9827980, essv9827993, essv9827990, essv9827976, essv9827983, essv9827987, essv9827995, essv9827982, essv9827996, essv9827986, essv9827991
Samples400821FE, 401330RR, 401321CE, 400641WJ, 400368SD, 401550SP, 400385LJ, 400060MC, 400974PS, 402063WM, 400768MN, 400043HC, 400362TV, 400837HN, 401315HK, 401552BK, 400759FV, 400785AK, 401177SL, 400209BS
Known GenesNXF2, NXF2B, TCP11X2
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)esv3574265
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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