A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747405



Internal ID9981689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50035324..50035423hg38UCSC Ensembl
Outerchr13:50609460..50609559hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977516
SamplesSSM029
Known GenesDLEU2
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)esv2747405
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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