A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648000



Internal ID7034739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47825430..47840364hg38UCSC Ensembl
chr22:48221179..48236113hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3814935
hg1914935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16449608, essv16449609
SamplesNA18908, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648000
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer