A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv533n100



Internal ID22786620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196778768..196801995hg38UCSC Ensembl
chr1:196747898..196771125hg19UCSC Ensembl
chr1:195014521..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3823228
hg1923228
hg1823228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006949, nsv998083, nsv998616
Samples
Known GenesCFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv533n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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