A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1973n100



Internal ID19012341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100915376..100998647hg38UCSC Ensembl
chr14:101381713..101464984hg19UCSC Ensembl
chr14:100451466..100534737hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3883272
hg1983272
hg1883272
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041797, nsv1039481, nsv1050238, nsv1045135, nsv1053887, nsv1054907, nsv1036261
Samples
Known GenesSNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1973n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss27
Observed Complex0
Frequencyn/a


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