A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50e213



Internal ID20151597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99401288..99479539hg38UCSC Ensembl
chr4:100322445..100400696hg19UCSC Ensembl
chr4:100541468..100619719hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3878252
hg1978252
hg1878252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584520, esv3584518
SamplesOA012, OA018
Known GenesADH7
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)dgv50e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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