A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721669



Internal ID5068959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234653328..234664791hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6689691
SamplesSSM036
Known GenesLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2721669
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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