A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv65e213



Internal ID22786083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2029164..2308582hg38UCSC Ensembl
chr8:1977327..2254637hg19UCSC Ensembl
chr8:1964734..2242044hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38279419
hg19277311
hg18277311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584561, esv3584562, esv3584560, esv3584563
Samples8S, KSF005, 1WS, KSF008
Known GenesMIR7160, MYOM2
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)dgv65e213
Frequency
Sample Size34
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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