A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1978n100



Internal ID20153594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101504179..101603185hg38UCSC Ensembl
chr14:101970516..102069522hg19UCSC Ensembl
chr14:101040269..101139275hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3899007
hg1999007
hg1899007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040582, nsv1051739
Samples
Known GenesDIO3, DIO3OS, MIR1247
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1978n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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