A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747402



Internal ID9981686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49999052..49999162hg38UCSC Ensembl
Outerchr13:50573188..50573298hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827882
SamplesSSM080
Known GenesDLEU2, TRIM13
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)esv2747402
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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