A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6870812



Internal ID10267215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29212856..29348137hg38UCSC Ensembl
Outerchr13:29786993..29922274hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38135282
hg19135282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747196, esv2747194
Supporting Variants
SamplesSSM090
Known GenesMTUS2
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)essv6870812
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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