A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv512n100



Internal ID22786599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196745680..196792924hg38UCSC Ensembl
chr1:196714810..196762054hg19UCSC Ensembl
chr1:194981433..195028677hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3847245
hg1947245
hg1847245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999388, nsv1002459, nsv1014311, nsv998564
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv512n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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