A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572171



Internal ID18353683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140448199..140465123hg38UCSC Ensembl
Innerchr7:140147999..140164923hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3816925
hg1916925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1966e212
Supporting Variantsessv9785117, essv9785118
Samples400995MS, 401582GG
Known GenesMKRN1
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)esv3572171
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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