A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588490



Internal ID6975907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197008580..197058939hg38UCSC Ensembl
chr1:196977710..197028069hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3850360
hg1950360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253777
SamplesHG02309
Known GenesCFHR5, F13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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