A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761111



Internal ID10168281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99025723..99026322hg38UCSC Ensembl
Outerchr13:99677977..99678576hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747871, esv2747870
Supporting Variants
SamplesSSM061
Known GenesDOCK9
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)essv6761111
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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