A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575507



Internal ID18357019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50668330..50677098hg38UCSC Ensembl
Innerchr22:51106758..51115526hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388769
hg198769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338e212
Supporting Variantsessv9822679, essv9822698, essv9822697, essv9822674, essv9822672, essv9822693, essv9822685, essv9822694, essv9822676, essv9822682, essv9822683, essv9822690, essv9822675, essv9822670, essv9822701, essv9822696, essv9822680, essv9822692, essv9822684, essv9822699, essv9822673, essv9822677, essv9822686, essv9822688, essv9822671, essv9822691, essv9822681, essv9822695
Samples400364SS, 401400NP, 400432VA, 401460LW, 401074CM, 400595CP, 400658BW, 400743LS, 401113MJ, 400231LP, 400817MB, 400374LB, 400198MD, 400383HL, 400870KC, 401526WB, 400047DS, 400248JO, 401259LS, 400788PV, 400722OM, 400103BN, 401025SM, 401010HT, 401143LK, 400021ME, 400234CA, 401068SD
Known GenesSHANK3
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)esv3575507
Frequency
Sample Size873
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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