A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688830



Internal ID9756001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27655387..27760747hg38UCSC Ensembl
Outerchr17:25982413..26087773hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38105361
hg19105361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715781
Supporting Variants
SamplesSSM035
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)essv6688830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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