A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16365518



Internal ID6367334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19541090..19570924hg38UCSC Ensembl
Innerchr22:19541120..19570894hg38UCSC Ensembl
Outerchr22:19541060..19570954hg38UCSC Ensembl
chr22:19528613..19558447hg19UCSC Ensembl
Innerchr22:19528643..19558417hg19UCSC Ensembl
Outerchr22:19528583..19558477hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3829835
hg1929835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647273
Supporting Variants
SamplesNA19066
Known GenesLINC00895
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16365518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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