A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858649



Internal ID9909582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63357215..63357346hg38UCSC Ensembl
Outerchr20:61988567..61988698hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722911, esv2722909, esv2722913
Supporting Variants
SamplesSSM087
Known GenesCHRNA4
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)essv6858649
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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