A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959600



Internal ID9715295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98653895..98654064hg38UCSC Ensembl
Outerchr13:99306149..99306318hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747861, esv2747864, esv2747862
Supporting Variants
SamplesSSM026
Known Genes
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)essv6959600
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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