A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588491



Internal ID6628783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197008580..197058939hg38UCSC Ensembl
chr1:196977710..197028069hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3850360
hg1950360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253778
SamplesHG02012
Known GenesCFHR5, F13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588491
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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