A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647287



Internal ID6687342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20112473..20112776hg38UCSC Ensembl
Innerchr22:20112472..20112777hg38UCSC Ensembl
Outerchr22:20112473..20112776hg38UCSC Ensembl
chr22:20099996..20100299hg19UCSC Ensembl
Innerchr22:20100300..20099995hg19UCSC Ensembl
Outerchr22:20099996..20100299hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370126
SamplesHG00360
Known GenesTRMT2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647287
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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