A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722216



Internal ID9956515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:15000338..15000653hg38UCSC Ensembl
Outerchr20:14980984..14981299hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832157, essv6688979
SamplesSSM035, SSM081
Known GenesMACROD2
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)esv2722216
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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