A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838544



Internal ID18423128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14991827..15022400hg38UCSC Ensembl
Innerchr16:15085684..15116257hg19UCSC Ensembl
Innerchr16:14993185..15023758hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3830574
hg1930574
hg1830574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584925
Supporting Variants
SamplesOA072
Known GenesMIR1972-1, MIR1972-2, PDXDC1
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)essv9838544
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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