A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv56e213



Internal ID22786074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:254283..381149hg38UCSC Ensembl
chr6:254283..381149hg19UCSC Ensembl
chr6:199283..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 Variants
Supporting Variantsesv3584837, esv3584836
SamplesKSF005, OA007, 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)dgv56e213
Frequency
Sample Size34
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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