A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5839851



Internal ID8899897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196767995..196852687hg38UCSC Ensembl
chr1:196737125..196821817hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884693
hg1984693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676405
Supporting Variants
SamplesHG00351
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5839851
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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