A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584930



Internal ID18770400
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24e213
Supporting Variantsessv9838465
Samples3LK
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)esv3584930
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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