A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839475



Internal ID10008226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35351988..35440335hg38UCSC Ensembl
Outerchr17:33679007..33767354hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3888348
hg1988348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715869
Supporting Variants
SamplesSSM010
Known GenesSLFN11, SLFN12, SLFN13
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)essv6839475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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