A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720516



Internal ID9954812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:111125626..111128526hg38UCSC Ensembl
Outerchr2:111883203..111886103hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962113, essv6910425, essv6880679
SamplesSSM027, SSM094, SSM015
Known GenesBCL2L11
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)esv2720516
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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