A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1969n100



Internal ID20153585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100120420..100198944hg38UCSC Ensembl
chr14:100586757..100665281hg19UCSC Ensembl
chr14:99656510..99735034hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3878525
hg1978525
hg1878525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053618, nsv1053143
Samples
Known GenesDEGS2, EVL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1969n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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