A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33n100



Internal ID20151649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12792599..12855993hg38UCSC Ensembl
chr1:12852748..12915847hg19UCSC Ensembl
chr1:12775335..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3863395
hg1963100
hg1863100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010518, nsv1014153, nsv1005021, nsv1011031, nsv1014677, nsv1014357, nsv1000846, nsv1009225
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv33n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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