A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575256



Internal ID18703454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64978232..64992941hg38UCSC Ensembl
Innerchr2:65205366..65220075hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3814710
hg1914710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1127e212
Supporting Variantsessv9825844, essv9825855
Samples400926LJ, 402064DC
Known GenesSLC1A4
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)esv3575256
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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