A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726371



Internal ID9960678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189959792..189959926hg38UCSC Ensembl
Outerchr3:189677581..189677715hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670061
SamplesSSM031
Known GenesLEPREL1
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)esv2726371
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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