A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647292



Internal ID7034033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20392262..20492066hg38UCSC Ensembl
chr22:20746552..20846353hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3899805
hg1999802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370131
SamplesHG00141
Known GenesKLHL22, SCARF2, ZNF74
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647292
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