A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584713



Internal ID18770183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762477..55788532hg38UCSC Ensembl
Innerchr16:55796389..55822444hg19UCSC Ensembl
Innerchr16:54353890..54379945hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826056
hg1926056
hg1826056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838457, essv9838464, essv9838462, essv9838463, essv9838461, essv9838459, essv9838458, essv9838460
SamplesOA059, KSF005, B4, OA0039, KSM006, OA053, KSM003, KSF008
Known GenesCES1P1
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584713
Frequency
Sample Size34
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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