A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647671



Internal ID7034411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35677268..35681824hg38UCSC Ensembl
chr22:36073315..36077871hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384557
hg194557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16413340, essv16413341
SamplesNA19028, NA18924
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647671
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