A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682417



Internal ID10095154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591176..14593348hg38UCSC Ensembl
Outerchr20:14571822..14573994hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382173
hg192173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722209
Supporting Variants
SamplesSSM033
Known GenesMACROD2, MACROD2-IT1
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)essv6682417
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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