A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647675



Internal ID7034415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36059193..36071113hg38UCSC Ensembl
chr22:36455241..36467161hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3811921
hg1911921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16413521, essv16413520
SamplesHG02139, HG02396
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647675
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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