A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5104n100



Internal ID22791191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9368964..9713481hg38UCSC Ensembl
chr4:9370690..9715105hg19UCSC Ensembl
chr4:8979788..9324203hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38344518
hg19344416
hg18344416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011425, nsv1006867, nsv1002981, nsv1006342, nsv1007204, nsv1002757
Samples
Known GenesDEFB131, LOC650293, MIR548I2, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5104n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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