A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572256



Internal ID18700454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314296..147320311hg38UCSC Ensembl
Innerchr7:147011388..147017403hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1985e212
Supporting Variantsessv9785823, essv9785814, essv9785810, essv9785821, essv9785813, essv9785816, essv9785807, essv9785815, essv9785812, essv9785820, essv9785818, essv9785808, essv9785824, essv9785809, essv9785817, essv9785819
Samples401841OB, 401195PN, 401733CG, 400425SL, 400127MD, 401538NS, 400385LJ, 400206SC, 400353ML, 401532LJ, 401393JW, 401210PB, 401864CV, 401847RK, 402051AF, 401817MC
Known GenesCNTNAP2, MIR548I4
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)esv3572256
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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