A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591916



Internal ID6632200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107926123..108010333hg38UCSC Ensembl
chr2:108542579..108626789hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3884211
hg1984211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10609678
SamplesNA18870
Known GenesSLC5A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591916
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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