A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647241



Internal ID6687296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18113975..18115244hg38UCSC Ensembl
Innerchr22:18114025..18115194hg38UCSC Ensembl
Outerchr22:18113868..18115351hg38UCSC Ensembl
chr22:18596741..18598011hg19UCSC Ensembl
Innerchr22:18596791..18597961hg19UCSC Ensembl
Outerchr22:18596634..18598118hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381270
hg191271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16361718
SamplesHG03920
Known GenesTUBA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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