A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1798n100



Internal ID22787885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20870300..20957189hg38UCSC Ensembl
chr14:21338459..21425348hg19UCSC Ensembl
chr14:20408299..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3886890
hg1986890
hg1886890
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039053, nsv1040386, nsv1036728, nsv1047105, nsv1040612, nsv1050407, nsv1049338, nsv1046078, nsv1052696, nsv1042584, nsv1045545
Samples
Known GenesECRP, RNASE2, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1798n100
Frequency
Sample Size11257
Observed Gain46
Observed Loss90
Observed Complex0
Frequencyn/a


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