A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663753



Internal ID9583172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35887126..35891504hg38UCSC Ensembl
chr22:36283173..36287551hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384379
hg194379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6014764, essv5409205
SamplesNA19396, NA19390
Known GenesRBFOX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663753
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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