A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5346n54



Internal ID20138770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:168352..181795hg38UCSC Ensembl
chr17:18143..31586hg19UCSC Ensembl
chr17:18143..31586hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3813444
hg1913444
hg1813444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573903, nsv573902, nsv573864, nsv573901
Samples
Known GenesDOC2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5346n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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