A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909475



Internal ID10018010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2153651..2153782hg38UCSC Ensembl
Outerchr17:2056945..2057076hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715492, esv2715491
Supporting Variants
SamplesSSM014
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)essv6909475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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