A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717454



Internal ID10129190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2693459..2693769hg38UCSC Ensembl
Outerchr17:2596753..2597063hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715504
Supporting Variants
SamplesSSM043
Known GenesCLUH
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)essv6717454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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