A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647555



Internal ID6687609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30060553..30066387hg38UCSC Ensembl
chr22:30456542..30462376hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg385835
hg195835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16402286, essv16402287
SamplesHG02654, NA19098
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647555
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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