A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718682



Internal ID10302318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48697153..48706546hg38UCSC Ensembl
Outerchr19:49200410..49209803hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg389394
hg199394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921402
SamplesSSM017
Known GenesFUT2
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)esv2718682
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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