A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9835410



Internal ID18683053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40752690..40759848hg38UCSC Ensembl
Innerchr1:41218362..41225520hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387159
hg197159
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577821
Supporting Variants
Samples401691HA
Known GenesMIR30C1, MIR30E, NFYC
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9835410
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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