A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv511n100



Internal ID22786598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196741937..196947657hg38UCSC Ensembl
chr1:196711067..196916787hg19UCSC Ensembl
chr1:194977690..195183410hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38205721
hg19205721
hg18205721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005164, nsv1000664, nsv1004879, nsv1012935
Samples
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv511n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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