A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932832



Internal ID10041626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591184..14593338hg38UCSC Ensembl
Outerchr20:14571830..14573984hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382155
hg192155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722209
Supporting Variants
SamplesSSM020
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)essv6932832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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