A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901115



Internal ID9947013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27655478..27760680hg38UCSC Ensembl
Outerchr17:25982504..26087706hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38105203
hg19105203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715781
Supporting Variants
SamplesSSM100
Known GenesNOS2
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)essv6901115
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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