A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5489n54



Internal ID22773384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18464220..18554008hg38UCSC Ensembl
chr17:18367534..18457322hg19UCSC Ensembl
chr17:18308259..18398047hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3889789
hg1989789
hg1889789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574546, nsv574547
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5489n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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