A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989200



Internal ID12982120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..196932623hg38UCSC Ensembl
Innerchr1:196731148..196901753hg19UCSC Ensembl
Innerchr1:194997771..195168376hg18UCSC Ensembl
Innerchr1:193462805..193633410hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38170606
hg19170606
hg18170606
hg17170606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34607
Supporting Variants
SamplesNA19130
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989200
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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