A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv397n100



Internal ID19010765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143664689..144572337hg38UCSC Ensembl
chr1:149159329..149521828hg19UCSC Ensembl
chr1:147425953..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38907649
hg19362500
hg18362500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011058, nsv1012846, nsv1010943, nsv1006677
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv397n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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