A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718253



Internal ID9952544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15931576..15933996hg38UCSC Ensembl
Outerchr19:16042386..16044806hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858728, essv6839640
SamplesSSM083, SSM087
Known GenesCYP4F11
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)esv2718253
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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