A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715371



Internal ID10299007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:841213..841787hg38UCSC Ensembl
Outerchr17:744453..745027hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732785, essv6803942, essv6966823
SamplesSSM027, SSM073, SSM047
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)esv2715371
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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