A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715500



Internal ID10299136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2302189..2302515hg38UCSC Ensembl
Outerchr17:2205483..2205809hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710019
SamplesSSM041
Known GenesSMG6
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)esv2715500
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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