A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588488



Internal ID6975905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196987015..197011691hg38UCSC Ensembl
chr1:196956145..196980821hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3824677
hg1924677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253771
SamplesHG02012
Known GenesCFHR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588488
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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