A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720189



Internal ID5067479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71798442..71798841hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variants
SamplesSSM086, SSM099, SSM096, SSM079
Known GenesDYSF
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2720189
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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