A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584476



Internal ID18423260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12797714..12832455hg38UCSC Ensembl
Innerchr1:12857863..12892309hg19UCSC Ensembl
Innerchr1:12780450..12814896hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3834742
hg1934447
hg1834447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838580
SamplesOA020
Known GenesPRAMEF11
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)esv3584476
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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