A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715380



Internal ID10299016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:893600..893819hg38UCSC Ensembl
Outerchr17:796840..797059hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv394e201
Supporting Variantsessv6858170, essv6725125, essv6717438, essv6882789
SamplesSSM045, SSM087, SSM094, SSM043
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)esv2715380
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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