A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv27n100



Internal ID20151643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12785708..12858224hg38UCSC Ensembl
chr1:12845851..12918079hg19UCSC Ensembl
chr1:12768438..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3872517
hg1972229
hg1872229
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009423, nsv1007443, nsv1010457, nsv1004265, nsv1005285, nsv1006973, nsv1012040
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv27n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss111
Observed Complex0
Frequencyn/a


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