A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573606



Internal ID18355118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:15805012..15813278hg38UCSC Ensembl
InnerchrX:15823135..15831401hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg388267
hg198267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9823837, essv9823824, essv9823838, essv9823820, essv9823880, essv9823825, essv9823859, essv9823848, essv9823870, essv9823864, essv9823927, essv9823826, essv9823877, essv9823845, essv9823874, essv9823840, essv9823858
Samples400424LN, 401146US, 400917CG, 401079HJ, 401030GI, 400663MD, 400093BL, 400082SD, 400681MC, 400014SL, 401700BN, 400274TL, 400818BL, 400458LS, 400323AA, 400084DM, 400269DA
Known GenesZRSR2
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)esv3573606
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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