A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722912



Internal ID9957212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63357156..63357304hg38UCSC Ensembl
Outerchr20:61988508..61988656hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674671, essv6841176, essv6692389, essv6721629, essv6967339
SamplesSSM010, SSM027, SSM036, SSM031, SSM044
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)esv2722912
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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