A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706423



Internal ID10119261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113600459..113600925hg38UCSC Ensembl
Outerchr13:114254774..114255240hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748342
Supporting Variants
SamplesSSM040
Known GenesTFDP1
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)essv6706423
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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