A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16351723



Internal ID6353539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16939332..17123705hg38UCSC Ensembl
chr22:17420222..17604595hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38184374
hg19184374
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647204
Supporting Variants
SamplesHG02728
Known GenesCECR6, CECR7, GAB4, IL17RA, LOC100996342
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16351723
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