A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715368



Internal ID10299004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:815493..815656hg38UCSC Ensembl
Outerchr17:718733..718896hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706771, essv6966821
SamplesSSM027, SSM040
Known GenesNXN
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)esv2715368
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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