A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574557



Internal ID18702755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:130241268..130242491hg38UCSC Ensembl
InnerchrX:129375242..129376465hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2425e212
Supporting Variantsessv9830429, essv9830418, essv9830417, essv9830441, essv9830420, essv9830413, essv9830442, essv9830430, essv9830411, essv9830407, essv9830431, essv9830437, essv9830439, essv9830409, essv9830428, essv9830436, essv9830440, essv9830414, essv9830438, essv9830425, essv9830412, essv9830424, essv9830416, essv9830419, essv9830415, essv9830406, essv9830423, essv9830432
Samples401074CM, 400429YF, 400077EB, 400131CM, 401906DT, 401695BT, 401965TG, 401550SP, 401104DM, 400385LJ, 400341GL, 401620BA, 400577MK, 400768MN, 400381CA, 400050RL, 400362TV, 400274TL, 401608GE, 400053LE, 400712GC, 400295PS, 401314MK, 400328LM, 402008MC, 400719TM, 400835FD, 400581VJ
Known GenesZNF280C
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)esv3574557
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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