A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986549



Internal ID12631985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196788213..196917213hg38UCSC Ensembl
Innerchr1:196757343..196886343hg19UCSC Ensembl
Innerchr1:195023966..195152966hg18UCSC Ensembl
Innerchr1:193489000..193618000hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38129001
hg19129001
hg18129001
hg17129001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34978
Supporting Variants
SamplesNA11840
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986549
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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