A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978117



Internal ID12631973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764003..197042447hg38UCSC Ensembl
Innerchr1:196733133..197011577hg19UCSC Ensembl
Innerchr1:194999756..195278200hg18UCSC Ensembl
Innerchr1:193464790..193743234hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38278445
hg19278445
hg18278445
hg17278445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34978
Supporting Variants
SamplesNA11840
Known GenesCFHR1, CFHR2, CFHR3, CFHR4, CFHR5, F13B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978117
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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