A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868281



Internal ID10264934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60087461..60087524hg38UCSC Ensembl
Outerchr20:58662516..58662579hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722646, esv2722645, esv2722642, esv2722643
Supporting Variants
SamplesSSM089
Known Genes
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)essv6868281
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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