A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403067



Internal ID2505689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31018729..31033358hg38UCSC Ensembl
chr22:31414715..31429344hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3814630
hg1914630
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647579
Supporting Variants
SamplesHG02223
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403067
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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