A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6014764



Internal ID8992167
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 Flag1
Merged StatusS
Merged Variantsesv2663753
Supporting Variants
SamplesNA19390
Known GenesRBFOX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6014764
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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