A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692389



Internal ID9759001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63357156..63357280hg38UCSC Ensembl
Outerchr20:61988508..61988632hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722911, esv2722912, esv2722909
Supporting Variants
SamplesSSM036
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)essv6692389
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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