A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16366908



Internal ID6368724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19719848..19878980hg38UCSC Ensembl
chr22:19707371..19866503hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38159133
hg19159133
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647279
Supporting Variants
SamplesHG00141
Known GenesC22orf29, GNB1L, GP1BB, SEPT5, SEPT5-GP1BB, TBX1, TXNRD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16366908
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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