A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv547n100



Internal ID22786634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196819859..196847588hg38UCSC Ensembl
chr1:196788989..196816718hg19UCSC Ensembl
chr1:195055612..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3827730
hg1927730
hg1827730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998147, nsv1014622
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv547n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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