A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584697



Internal ID18423481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6790764..6997888hg38UCSC Ensembl
Innerchr16:6840765..7047889hg19UCSC Ensembl
Innerchr16:6780766..6987890hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38207125
hg19207125
hg18207125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837826
Samples2RB
Known GenesRBFOX1
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)esv3584697
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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