A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722913



Internal ID9957213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63357215..63357360hg38UCSC Ensembl
Outerchr20:61988567..61988712hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816241, essv6967339, essv6858649
SamplesSSM027, SSM077, SSM087
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)esv2722913
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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