A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16370976



Internal ID6372792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21567924..21611833hg38UCSC Ensembl
chr22:21922213..21966122hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843910
hg1943910
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647318
Supporting Variants
SamplesHG02230
Known GenesUBE2L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16370976
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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