A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5899964



Internal ID9655233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196791346..196908663hg38UCSC Ensembl
chr1:196760476..196877793hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38117318
hg19117318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661771
Supporting Variants
SamplesNA19384
Known GenesCFHR1, CFHR3, CFHR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5899964
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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