A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583213



Internal ID18364725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5989712..6000302hg38UCSC Ensembl
Innerchr19:5989723..6000313hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810591
hg1910591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816519, essv9816515, essv9816517, essv9816518, essv9816528, essv9816516, essv9816523, essv9816514, essv9816513, essv9816527, essv9816522, essv9816529, essv9816520, essv9816525, essv9816526, essv9816524
Samples400094RS, 400313DF, 400834SS, 400325BE, 400669LD, 402038MR, 401726LW, 400615RI, 400838AM, 401586RS, 401813DN, 400354TJ, 400201PK, 400267GD, 400833BB, 400291VJ
Known GenesLOC100128568, RFX2
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)esv3583213
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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