A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544678



Internal ID18745754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196767340..196775590hg38UCSC Ensembl
Outerchr1:196766911..196776486hg38UCSC Ensembl
Innerchr1:196736470..196744720hg19UCSC Ensembl
Outerchr1:196736041..196745616hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg389576
hg199576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743425
Samples
Known GenesCFHR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544678
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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