A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647302



Internal ID6687357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20724447..20805193hg38UCSC Ensembl
chr22:21078735..21159481hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3880747
hg1980747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370911
SamplesHG02013
Known GenesPI4KA, SERPIND1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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