A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575046



Internal ID18703244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154729063..154735119hg38UCSC Ensembl
InnerchrX:153957338..153963394hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386057
hg196057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544e212
Supporting Variantsessv9834208, essv9834226, essv9834183, essv9834206, essv9834203, essv9834191, essv9834213, essv9834214, essv9834207, essv9834193, essv9834209, essv9834204, essv9834192, essv9834224, essv9834195, essv9834212, essv9834223, essv9834198, essv9834194, essv9834218, essv9834202, essv9834190, essv9834182, essv9834225, essv9834216, essv9834221, essv9834185, essv9834215, essv9834217, essv9834205, essv9834201, essv9834197, essv9834187, essv9834210, essv9834220
Samples400439IM, 401852SK, 401074CM, 400970VE, 400068PW, 400658BW, 401253MC, 400231LP, 401538NS, 400374LB, 401863BD, 402052ZA, 401230NL, 401026AM, 401825TH, 401326LI, 400800MW, 401017SC, 401812HG, 400978JG, 401011PJ, 401369GR, 400378HL, 401677MM, 401428LD, 400376SJ, 401552BK, 401012TP, 401314MK, 401215MJ, 400323AA, 401250WD, 401040KM, 401284NA, 400012CJ
Known GenesGAB3
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)esv3575046
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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