A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979189



Internal ID12979789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196770707..196917640hg38UCSC Ensembl
Innerchr1:196739837..196886770hg19UCSC Ensembl
Innerchr1:195006460..195153393hg18UCSC Ensembl
Innerchr1:193471494..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38146934
hg19146934
hg18146934
hg17146934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34776
Supporting Variants
SamplesNA18505
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979189
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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