A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718050



Internal ID3268546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5834230..5834420hg38UCSC Ensembl
Outerchr19:5834241..5834431hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696660, essv6828696
SamplesSSM037, SSM080
Known GenesFUT6
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)esv2718050
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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