A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724163



Internal ID5071453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:34069428..34070316hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6921510, essv6773245, essv6902344, essv6764082, essv6925497, essv6858918, essv6885846, essv6744811, essv6758938
SamplesSSM065, SSM053, SSM062, SSM012, SSM017, SSM095, SSM087, SSM018, SSM059
Known GenesLARGE
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724163
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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