A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746983



Internal ID10154579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:79424292..79424562hg38UCSC Ensembl
Outerchr13:79998427..79998697hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747707
Supporting Variants
SamplesSSM055
Known GenesRBM26-AS1
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)essv6746983
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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