A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16374387



Internal ID6376203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22228240..22331920hg38UCSC Ensembl
chr22:22582636..22686278hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38103681
hg19103643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647351
Supporting Variants
SamplesNA19462
Known GenesBMS1P20, VPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16374387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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