A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6775902



Internal ID10181794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111631513..111631917hg38UCSC Ensembl
Outerchr13:112283860..112284264hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748089
Supporting Variants
SamplesSSM066
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)essv6775902
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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