A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16414739



Internal ID6416555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36568218..36578364hg38UCSC Ensembl
Innerchr22:36568718..36577864hg38UCSC Ensembl
Outerchr22:36567218..36579364hg38UCSC Ensembl
chr22:36964265..36974411hg19UCSC Ensembl
Innerchr22:36964765..36973911hg19UCSC Ensembl
Outerchr22:36963265..36975411hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3810147
hg1910147
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647689
Supporting Variants
SamplesHG03706
Known GenesCACNG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16414739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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