A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584836



Internal ID18770306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:254283..381149hg38UCSC Ensembl
Innerchr6:254283..381149hg19UCSC Ensembl
Innerchr6:199283..326149hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126867
hg19126867
hg18126867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv56e213
Supporting Variantsessv9838858, essv9838855, essv9838857
SamplesKSF005, KSM006, KSM003
Known GenesDUSP22
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)esv3584836
Frequency
Sample Size34
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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