A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5520n54



Internal ID18997696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31310290..31322205hg38UCSC Ensembl
chr17:29637308..29649223hg19UCSC Ensembl
chr17:26661434..26673349hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3811916
hg1911916
hg1811916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574672, nsv574675, nsv574673, nsv574674
Samples
Known GenesEVI2A, EVI2B, NF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5520n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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