A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv508n100



Internal ID22786595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196740618..196843388hg38UCSC Ensembl
chr1:196709748..196812518hg19UCSC Ensembl
chr1:194976371..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38102771
hg19102771
hg18102771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007127, nsv999556, nsv1011310
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv508n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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