A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699381



Internal ID10110948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8098344..8098701hg38UCSC Ensembl
Outerchr19:8163228..8163585hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718116
Supporting Variants
SamplesSSM038
Known GenesFBN3
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)essv6699381
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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