A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577260



Internal ID18705458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:133973907..133975164hg38UCSC Ensembl
InnerchrX:133107934..133109191hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9830591, essv9830601, essv9830602, essv9830590, essv9830586, essv9830593, essv9830580, essv9830579, essv9830582, essv9830587, essv9830584, essv9830592, essv9830600, essv9830585, essv9830597, essv9830598, essv9830589, essv9830581, essv9830595, essv9830594, essv9830596, essv9830583
Samples400316SL, 400075MR, 400926LJ, 400737GC, 400970VE, 401427CB, 401856GC, 400834SS, 400503HD, 400688FL, 400148MS, 400032RC, 400870KC, 400791GC, 400171BJ, 401075MN, 400249BC, 400598DA, 400818BL, 401054VM, 401358VP, 400238BB
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)esv3577260
Frequency
Sample Size873
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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