A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835783



Internal ID9888814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63677779..63677949hg38UCSC Ensembl
Outerchr20:62309132..62309302hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722957
Supporting Variants
SamplesSSM082
Known GenesRTEL1, RTEL1-TNFRSF6B
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)essv6835783
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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