A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971770



Internal ID10073574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591187..14593373hg38UCSC Ensembl
Outerchr20:14571833..14574019hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382187
hg192187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722209
Supporting Variants
SamplesSSM028
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)essv6971770
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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