A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583593



Internal ID18711791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56563493..56572188hg38UCSC Ensembl
Innerchr19:57074862..57083557hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg388696
hg198696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9818342, essv9818343, essv9818346, essv9818338, essv9818336, essv9818345, essv9818339, essv9818341, essv9818337, essv9818340
Samples400424LN, 401927SK, 400523GB, 401377MA, 401732HW, 400093BL, 401586RS, 401506LK, 401025SM, 401571SD
Known GenesZNF470
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)esv3583593
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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