A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747378



Internal ID3295330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48427261..48427410hg38UCSC Ensembl
Outerchr13:49001397..49001546hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891409, essv6706351
SamplesSSM040, SSM097
Known GenesLPAR6, RB1
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)esv2747378
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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