A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3088n100



Internal ID20154704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4868317..4942562hg38UCSC Ensembl
chr17:4771612..4845857hg19UCSC Ensembl
chr17:4717812..4786602hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3874246
hg1974246
hg1868791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055335, nsv1063546
Samples
Known GenesC17orf107, CHRNE, GP1BA, MINK1, RNF167, SLC25A11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3088n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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