A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584924



Internal ID18423708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4330628..4469258hg38UCSC Ensembl
Innerchr16:4380629..4519259hg19UCSC Ensembl
Innerchr16:4320630..4459260hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38138631
hg19138631
hg18138631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838890
Samples2RB
Known GenesCORO7, CORO7-PAM16, DNAJA3, GLIS2, NMRAL1, PAM16, VASN
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)esv3584924
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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