A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874145



Internal ID9923528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27655332..27760732hg38UCSC Ensembl
Outerchr17:25982358..26087758hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38105401
hg19105401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715781
Supporting Variants
SamplesSSM091
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)essv6874145
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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