A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647286



Internal ID6687341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20043506..20045180hg38UCSC Ensembl
Innerchr22:20043506..20045180hg38UCSC Ensembl
Outerchr22:20043255..20045525hg38UCSC Ensembl
chr22:20031029..20032703hg19UCSC Ensembl
Innerchr22:20031029..20032703hg19UCSC Ensembl
Outerchr22:20030778..20033048hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381675
hg191675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370125, essv16370124, essv16370123
SamplesNA18976, NA18610, NA18574
Known GenesTANGO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647286
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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