A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863578



Internal ID9910283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15882547..15882604hg38UCSC Ensembl
Outerchr19:15993357..15993414hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718249, esv2718248, esv2718247, esv2718244
Supporting Variants
SamplesSSM088
Known GenesCYP4F2
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)essv6863578
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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