A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3270n100



Internal ID19013638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58972158..59269333hg38UCSC Ensembl
chr17:57049519..57346694hg19UCSC Ensembl
chr17:54404301..54701476hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38297176
hg19297176
hg18297176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066788, nsv1066388, nsv1064384
Samples
Known GenesGDPD1, MIR301A, MIR454, PPM1E, PRR11, SKA2, SMG8, TRIM37
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3270n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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