A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725160



Internal ID9789439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27644741..27752376hg38UCSC Ensembl
Outerchr17:25971767..26079402hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38107636
hg19107636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715781
Supporting Variants
SamplesSSM045
Known GenesLGALS9
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)essv6725160
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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