A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16352247



Internal ID6354063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17174250..17207794hg38UCSC Ensembl
chr22:17655140..17688684hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3833545
hg1933545
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647210
Supporting Variants
SamplesHG03777
Known GenesCECR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16352247
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