A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584823



Internal ID18423607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:168804230..168821314hg38UCSC Ensembl
Innerchr4:169725381..169742465hg19UCSC Ensembl
Innerchr4:169961956..169979040hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3817085
hg1917085
hg1817085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838322
SamplesOA016
Known GenesPALLD
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)esv3584823
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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