A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16381307



Internal ID6383123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23097961..23315033hg38UCSC Ensembl
chr22:23440148..23657220hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38217073
hg19217073
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647392
Supporting Variants
SamplesHG01486
Known GenesBCR, FBXW4P1, GNAZ, RAB36, RTDR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16381307
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