A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720505



Internal ID9954801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108693937..108695644hg38UCSC Ensembl
Outerchr2:109310393..109312100hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg381708
hg191708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742417, essv6962111, essv6753782, essv6750879, essv6874987
SamplesSSM027, SSM057, SSM058, SSM092, SSM053
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2720505
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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