A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838652



Internal ID18422254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117657..70164453hg38UCSC Ensembl
Innerchr16:70151560..70198356hg19UCSC Ensembl
Innerchr16:68709061..68755857hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3846797
hg1946797
hg1846797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584933
Supporting Variants
Samples3LK
Known GenesPDPR
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)essv9838652
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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