A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852604



Internal ID10250825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591183..14593316hg38UCSC Ensembl
Outerchr20:14571829..14573962hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722209
Supporting Variants
SamplesSSM086
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)essv6852604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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