A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1972n100



Internal ID19012340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100910441..101001185hg38UCSC Ensembl
chr14:101376778..101467522hg19UCSC Ensembl
chr14:100446531..100537275hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3890745
hg1990745
hg1890745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048683, nsv1043529, nsv1045182, nsv1042914, nsv1049435, nsv1054152, nsv1045021, nsv1045659, nsv1048432, nsv1040750, nsv1048820, nsv1042767, nsv1039968, nsv1052825, nsv1041514, nsv1050996, nsv1038280
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)dgv1972n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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