A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647572



Internal ID7034312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30855313..30884216hg38UCSC Ensembl
chr22:31251300..31280203hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3828904
hg1928904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403052
SamplesNA18640
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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