A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747857



Internal ID9982141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98536679..98537024hg38UCSC Ensembl
Outerchr13:99188933..99189278hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823834, essv6851521
SamplesSSM086, SSM079
Known GenesSTK24
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)esv2747857
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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