A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3083n100



Internal ID20154699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2351844..2409068hg38UCSC Ensembl
chr17:2255138..2312362hg19UCSC Ensembl
chr17:2201888..2259112hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3857225
hg1957225
hg1857225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063834, nsv1059182
Samples
Known GenesLOC284009, MNT, SGSM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3083n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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