A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898149



Internal ID10290990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68231390..68231660hg38UCSC Ensembl
Outerchr17:66227531..66227801hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716142
Supporting Variants
SamplesSSM099
Known Genes
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)essv6898149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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