A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647842



Internal ID7034581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42771719..42780852hg38UCSC Ensembl
Innerchr22:42772219..42780352hg38UCSC Ensembl
Outerchr22:42770719..42781852hg38UCSC Ensembl
chr22:43167725..43176858hg19UCSC Ensembl
Innerchr22:43168225..43176358hg19UCSC Ensembl
Outerchr22:43166725..43177858hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389134
hg199134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16433313, essv16433315, essv16433314
SamplesNA19917, HG03888, HG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647842
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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