A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577259



Internal ID18705457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:133636190..133637988hg38UCSC Ensembl
InnerchrX:132770218..132772016hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9830568, essv9830564, essv9830565, essv9830543, essv9830554, essv9830549, essv9830557, essv9830562, essv9830553, essv9830550, essv9830570, essv9830569, essv9830548, essv9830559, essv9830567, essv9830558, essv9830572, essv9830542, essv9830563, essv9830556, essv9830573, essv9830552, essv9830545, essv9830551, essv9830571, essv9830560, essv9830547, essv9830546, essv9830561
Samples400316SL, 400926LJ, 400737GC, 400970VE, 401856GC, 400834SS, 400937OR, 401990PR, 401842BJ, 400148MS, 400368SD, 400032RC, 400478WE, 400733SW, 400870KC, 400791GC, 401026AM, 401185LE, 400967PK, 400724CD, 401075MN, 400249BC, 400598DA, 400818BL, 400728PB, 400732MA, 400458LS, 400722OM, 401358VP
Known GenesGPC3
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)esv3577259
Frequency
Sample Size873
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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