A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715657



Internal ID10299293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:11953775..11954577hg38UCSC Ensembl
Outerchr17:11857092..11857894hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38803
hg19803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944195, essv6713582, essv6706794, essv6936903, essv6747281, essv6756037, essv6941053, essv6674226, essv6682197, essv6696257, essv6717472, essv6800946
SamplesSSM042, SSM058, SSM021, SSM003, SSM031, SSM033, SSM040, SSM072, SSM037, SSM022, SSM055, SSM043
Known GenesDNAH9
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)esv2715657
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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