A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv51e213



Internal ID20151598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99511684..99555392hg38UCSC Ensembl
chr4:100432841..100476549hg19UCSC Ensembl
chr4:100651864..100695572hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3843709
hg1943709
hg1843709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584522, esv3584523
SamplesOA012, OA018
Known GenesC4orf17, TRMT10A
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)dgv51e213
Frequency
Sample Size34
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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