A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748368



Internal ID9982652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113786412..113786641hg38UCSC Ensembl
Outerchr13:114489385..114489614hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966196, essv6732363, essv6977676, essv6835099, essv6728559, essv6713213
SamplesSSM027, SSM046, SSM042, SSM047, SSM029, SSM082
Known GenesTMEM255B
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)esv2748368
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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