A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590613



Internal ID6630899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46548390..46562976hg38UCSC Ensembl
chr2:46775529..46790115hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3814587
hg1914587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10487723, essv10487722
SamplesNA19131, NA19391
Known GenesRHOQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590613
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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