A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722343



Internal ID9956642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32588637..32588982hg38UCSC Ensembl
Outerchr20:31176439..31176784hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696541, essv6902125, essv6921176
SamplesSSM012, SSM017, SSM037
Known GenesLOC149950
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)esv2722343
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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