A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716000



Internal ID10299636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157113..47157229hg38UCSC Ensembl
Outerchr17:45234479..45234595hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv421e201
Supporting Variantsessv6858272, essv6960452
SamplesSSM087, SSM026
Known GenesCDC27
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)esv2716000
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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