A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727904



Internal ID9962216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:83546141..83547467hg38UCSC Ensembl
Outerchr4:84467294..84468620hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734047
SamplesSSM049
Known GenesAGPAT9
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)esv2727904
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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